Varaico: Literature-Extracted Genetic Variants

Gene:OTOGL
Variant:p.P945S
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OTOGL

NM_001378609.3:p.P945S

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.

Hao C et al.

Communications Medicine, 2025

41238831 (PubMed )
Supplement: 43856_2025_1208_MOESM1_ESM.pdf

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

Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss.

Maekawa K et al.

Genes, 2025

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_S5

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.

Zhu Y et al.

Jama Network Open, 2022

35816303 (PubMed )
Supplement: jamanetwopen-e2220986-s001.pdf

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN et al.

Genes, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."