Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.G243R
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TMPRSS3

NM_001256317.3:p.G243R

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9

Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.

Nisenbaum E et al.

Audiology & Neuro-otology, 2023

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Moon IS et al.

Frontiers in Genetics, 2021

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Khan A et al.

Molecular Genetics & Genomic Medicine, 2019

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A et al.

Plos One, 2014

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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."