Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH3
Variant:p.C687delFs
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DIAPH3

NM_001042517.2:p.C687delFs

Associated Papers

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

Zeng L et al.

Molecular Genetics & Genomic Medicine, 2026

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement.

Miolo G et al.

Journal of Audiology & Otology, 2025

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Chiereghin C et al.

Cells, 2022

35681420 (PubMed )
Supplement: cells-11-01726-s001.zip › cells-1661972-supplementary.xlsx › Table_S1_hearing_phenotipes_
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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."