Varaico: Literature-Extracted Genetic Variants

Gene:BDP1
Variant:p.T2399P
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BDP1

NM_018429.3:p.T2399P

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_S7
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