Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Y835fs
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CHD7

NM_017780.4:p.Y835fs

Associated Papers

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Husu E et al.

Clinical Genetics, 2013

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

Bilan F et al.

The Journal of Molecular Diagnostics : Jmd, 2012

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans MC et al.

Journal of Medical Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."