Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.R1054W
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CHD7

NM_017780.4:p.R1054W

Associated Papers

Classification and prediction of variants associated with hearing loss using sequence information in the vicinity of mutation sites.

Liu X et al.

Computational Biology and Chemistry, 2025

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx
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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."