(Q84157367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

Treacher Collins syndrome

1 February 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

D Macaya

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

T W Hefferon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

S Audlin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

N J Mendelsohn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

J Roggenbuck

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

G R Cutting

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

1 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

1 February 2020

published in

1 reference

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1 February 2020

volume

149A

1 reference

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1 February 2020

page(s)

1624-1627

1 reference

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1 February 2020

issue

8

1 reference

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1 February 2020

Identifiers

DOI

10.1002/AJMG.A.32834

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19572402%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference