A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. (Q64941014)

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scientific article published on 28 May 2019

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English	A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.	scientific article published on 28 May 2019

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instance of

scholarly article

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stated in

Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

case report

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title

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta (English)

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stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

main subject

homozygosity

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inferred from title

author

Sylvie Friant

series ordinal

12

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stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Agnes Bloch-Zupan

series ordinal

14

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Elise Schaefer

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3

object named as

Elise Schaefer

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Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

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1 May 2020

author name string

Virginie Laugel-Haushalter

series ordinal

1

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stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Séverine Bär

series ordinal

2

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Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Corinne Stoetzel

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4

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Véronique Geoffroy

series ordinal

5

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Yves Alembik

series ordinal

6

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Naji Kharouf

series ordinal

7

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Mathilde Huckert

series ordinal

8

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Pauline Hamm

series ordinal

9

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Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Joseph Hemmerlé

series ordinal

10

1 reference

stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Marie-Cécile Manière

series ordinal

11

1 reference

stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

Hélène Dollfus

series ordinal

13

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stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

publication date

28 May 2019

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Europe PubMed Central

PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

published in

Frontiers in Genetics

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Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

volume

10

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PMC publication ID

6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

page(s)

504

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6546871

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

copyright license

Creative Commons Attribution 4.0 International

start time

28 May 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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CRAC channelopathies

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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A method and server for predicting damaging missense mutations

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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A review of the principles of radiological assessment of skeletal dysplasias

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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TheCandida albicansplasma membrane protein Rch1p, a member of the vertebrate SLC10 carrier family, is a novel regulator of cytosolic Ca2+homoeostasis

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.

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PubMed

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12 December 2020

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Ion channels, channelopathies, and tooth formation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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STIM1 and SLC24A4 Are Critical for Enamel Maturation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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VaRank: a simple and powerful tool for ranking genetic variants

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

based on heuristic

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SIFT missense predictions for genomes

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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The plasma membrane protein Rch1 is a negative regulator of cytosolic calcium homeostasis and positively regulated by the calcium/calcineurin signaling pathway in budding yeast.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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https://pubmed.ncbi.nlm.nih.gov/31191616

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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

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PubMed

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12 December 2020

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31191616

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12 December 2020

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Identifiers

DOI

10.3389/FGENE.2019.00504

1 reference

stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

PMC publication ID

6546871

1 reference

stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

PubMed publication ID

31191616

1 reference

stated in

Europe PubMed Central

PMC publication ID

6546871

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 May 2020

 

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