Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.R165P
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PDZD7

NM_001195263.2:p.R165P

Associated Papers

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.

Mutai H et al.

Orphanet Journal of Rare Diseases, 2022

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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."