Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Y1806*
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CHD7

NM_017780.4:p.Y1806*

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG et al.

Molecular and Cellular Endocrinology, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers LE et al.

Nature Genetics, 2004

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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."