Varaico: Literature-Extracted Genetic Variants

Gene:OTOGL
Variant:p.S2165*
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OTOGL

NM_001378609.3:p.S2165*

Associated Papers

PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.

Hu SW et al.

Nature Communications, 2025

40764318 (PubMed )
Supplement: 41467_2025_62562_MOESM3_ESM.xlsx › Sheet1

Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.

Dai X et al.

Molecular Genetics & Genomic Medicine, 2025

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