(Q58682347)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Manuela Villamar

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Ignacio del Castillo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

author name string

Antonio Viñuela

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Teresa Rivera

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Felipe Moreno

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Miguel A Moreno-Pelayo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

language of work or name

English

0 references

publication date

1 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

4 January 2020

published in

1 reference

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4 January 2020

volume

146A

1 reference

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4 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

1032-1037

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.

4 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.32181

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.32181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18348274%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference