Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.S2288L
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MYO15A

NM_016239.4:p.S2288L

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_S9

Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.

Lee YH et al.

Genes, 2023

37107638 (PubMed )
Supplement: genes-14-00880-s001.zip › genes-2290782-supplementary.pdf

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.

Chen PY et al.

Ear and Hearing, 0

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