Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.F10delFs
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CHD7

NM_017780.4:p.F10delFs

Associated Papers

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

Wang T et al.

Heliyon, 2024

Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism.

Zhou C et al.

Fertility and Sterility, 2018

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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."