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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMPRSS3

Variant:p.C129Y

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TMPRSS3

NM_001256317.3:p.C129Y

hg38:chr21:42388463 C>T

Associated Papers

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Colbert BM et al.

Human Genetics, 2024

38691166 (PubMed )

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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."