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Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina

, Raymond, F. L., Botella, Maria P. and Tejada, Maria-Isabel 2018. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome. Frontiers in Genetics 9 , 7. 10.3389/fgene.2018.00007

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Official URL: http://dx.doi.org/10.3389/fgene.2018.00007

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Frontiers
ISSN:	1664-8021
Date of First Compliant Deposit:	19 April 2018
Date of Acceptance:	8 January 2018
Last Modified:	05 May 2023 14:06
URI:	https://orca.cardiff.ac.uk/id/eprint/110368

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Cited 12 times in Scopus. View in Scopus. Powered By Scopus® Data

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