Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Y1806*
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CHD7

NM_017780.4:p.Y1806*

Associated Papers

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."