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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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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: 19 Apr 2018 09:15
URI: http://orca.cf.ac.uk/id/eprint/110368

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