Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.Q445R
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GRHL2

NM_024915.4:p.Q445R

Associated Papers

A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.

Ma Y et al.

Acta Oto-laryngologica, 2026

Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.

Joo SY et al.

Scientific Reports, 2025

41023131 (PubMed )
Supplement: 41598_2025_18852_MOESM1_ESM.pdf

Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.

Kim JA et al.

Experimental & Molecular Medicine, 2025

40164689 (PubMed )
Supplement: 12276_2025_1428_MOESM1_ESM.pdf

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.

Trebusak Podkrajsek K et al.

Genes, 2021

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI et al.

Plos One, 2016

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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."