Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.L307F
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BSND

NM_057176.3:p.L307F

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_S3

Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.

Wang P et al.

Oncotarget, 2017

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