(Q79249807)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598341%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598341%20AND%20SRC:MED&resulttype=core&format=json

Treacher Collins syndrome

20 December 2019

main subject

1 reference

2

1 reference

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20 December 2019

author name string

Bozena Marszalek

1

1 reference

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20 December 2019

Piotr Wojcicki

3

1 reference

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20 December 2019

Kazimierz Kobus

4

1 reference

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20 December 2019

Wieslaw H Trzeciak

5

1 reference

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20 December 2019

publication date

1 December 2003

1 reference

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American Journal of Medical Genetics

20 December 2019

published in

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20 December 2019

volume

123A

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20 December 2019

issue

2

1 reference

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20 December 2019

page(s)

169-171

1 reference

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20 December 2019

Identifiers

DOI

10.1002/AJMG.A.20312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598341%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference