Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.H240fs
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TMPRSS3

NM_001256317.3:p.H240fs

Associated Papers

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.

Rezaie N et al.

Bmc Medical Genomics, 2024

39614311 (PubMed )
Supplement: 12920_2024_2055_MOESM1_ESM.xlsx › Sheet1

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan A et al.

Frontiers in Genetics, 2018

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