Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome (Q36950080)

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scientific article published on 31 May 2016

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English	Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome	scientific article published on 31 May 2016

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Europe PubMed Central

PMC publication ID

4886457

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17 August 2017

title

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome (English)

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Europe PubMed Central

PMC publication ID

4886457

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17 August 2017

main subject

multiple pterygium syndrome

1 reference

based on heuristic

inferred from title

pterygium

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based on heuristic

inferred from title

author

Ariana Kariminejad

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1

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Europe PubMed Central

PMC publication ID

4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

Björn Olsson

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4

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Europe PubMed Central

PMC publication ID

4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

author name string

Navid Almadani

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2

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Europe PubMed Central

PMC publication ID

4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

Atefeh Khoshaeen

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3

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Europe PubMed Central

PMC publication ID

4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

Ali-Reza Moslemi

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5

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Europe PubMed Central

PMC publication ID

4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

Homa Tajsharghi

series ordinal

6

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Europe PubMed Central

PMC publication ID

4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

publication date

31 May 2016

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Europe PubMed Central

PMC publication ID

4886457

retrieved

17 August 2017

published in

BMC Genetics

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Europe PubMed Central

PMC publication ID

4886457

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

volume

17

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Europe PubMed Central

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4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

issue

1

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Europe PubMed Central

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4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

page(s)

71

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4886457

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

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7 June 2020

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

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Molecular distinction between fetal and adult forms of muscle acetylcholine receptor

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Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch

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Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?

1 reference

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reference URL

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/S12863-016-0382-5

1 reference

stated in

Europe PubMed Central

PMC publication ID

4886457

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

Dimensions Publication ID

1020725382

0 references

PMC publication ID

4886457

1 reference

stated in

Europe PubMed Central

PMC publication ID

4886457

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

PubMed publication ID

27245440

1 reference

stated in

Europe PubMed Central

PMC publication ID

4886457

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27245440%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

 

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