ready CHD7 Database

General Information
The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. It can be used as a central, quick reference database for anyone who encounters a variant in the CHD7 gene. Mutations are numbered according to the current reference sequence (GenBank Accession no. NM017780.2).

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Record added: Oct. 31, 2018, 9:47 p.m.
Record updated: March 8, 2021, 9:42 a.m. by The FAIRsharing Team.

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Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N,Bergman JE,Swertz MA,Tranebjaerg L,Lodahl M,Schoots J,Hofstra RM,van Ravenswaaij-Arts CM,Hoefsloot LH
Hum Mutat 2012

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