Varaico: Literature-Extracted Genetic Variants

Gene:WHRN
Variant:p.R795Q
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WHRN

NM_015404.4:p.R795Q

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_S5

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S et al.

Molecular Genetics & Genomic Medicine, 2020

31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
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