Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.W840*
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CHD7

NM_017780.4:p.W840*

Associated Papers

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

Bai T et al.

American Journal of Medical Genetics. Part A, 2024

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N et al.

Human Mutation, 2012

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Bergman JE et al.

Journal of Medical Genetics, 2011

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."