Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.S279S
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CCDC50

NM_178335.3:p.S279S

Associated Papers

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.

Lachgar-Ruiz M et al.

Disease Models & Mechanisms, 2023

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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."