Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.A1593V
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STRC

NM_153700.2:p.A1593V

Associated Papers

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc3.xlsx › Table_S6

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

Variant analysis of 92 Chinese Han families with hearing loss.

Jin X et al.

Bmc Medical Genomics, 2022

Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.

Nishio SY et al.

Scientific Reports, 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."