Varaico: Literature-Extracted Genetic Variants

Gene:HECW1
Variant:p.V732A
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HECW1

NM_015052.5:p.V732A

Associated Papers

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

Santos-Cortez RL et al.

Human Molecular Genetics, 2014

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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."