Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD2
Variant:p.S286insFs
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MARVELD2

NM_001038603.3:p.S286insFs

Associated Papers

Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.

Wang X et al.

Scientific Reports, 2025

40595116 (PubMed )
Supplement: 41598_2025_6744_MOESM1_ESM.xls › Supplementary_Table_S2

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
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