Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.K850_I852delFs
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CHD7

NM_017780.4:p.K850_I852delFs

Associated Papers

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

Dana J et al.

Clinical Genetics, 2023

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

Legendre M et al.

Journal of Medical Genetics, 2012

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Sanlaville D 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."