Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.V108fs
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TMPRSS3

NM_001256317.3:p.V108fs

Associated Papers

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Fehrmann MLA et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2025

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 )
Supplement: 439_2024_2648_MOESM4_ESM.xlsx › eTable_2_All_Participants

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
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