Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. (Q48233818)

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scientific article published on 22 January 2015

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English	Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.	scientific article published on 22 January 2015

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

title

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations (English)

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

author

Jung Min Ko

series ordinal

7

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

author name string

Jieun Seo

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1

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

In-Ho Choi

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2

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Europe PubMed Central

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25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

Je Sang Lee

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3

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Europe PubMed Central

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25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

Yongjin Yoo

series ordinal

4

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

Nayoung K D Kim

series ordinal

5

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

Murim Choi

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6

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PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

Yong Beom Shin

series ordinal

8

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25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

publication date

22 January 2015

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Europe PubMed Central

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25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 February 2020

published in

Journal of Human Genetics

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25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

volume

60

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Europe PubMed Central

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25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

issue

4

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Europe PubMed Central

PubMed publication ID

25608830

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

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28 February 2020

page(s)

213-215

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Europe PubMed Central

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25608830

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28 February 2020

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21 January 2018

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

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21 January 2018

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

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21 January 2018

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

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21 January 2018

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21 January 2018

Application of whole exome sequencing to identify disease-causing variants in inherited human diseases

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21 January 2018

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A method and server for predicting damaging missense mutations

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

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Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle

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21 January 2018

Identifiers

DOI

10.1038/JHG.2015.2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

25608830

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 February 2020

PubMed publication ID

25608830

1 reference

stated in

Europe PubMed Central

PubMed publication ID

25608830

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608830%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 February 2020

 

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