Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.S1208_G1209delFs
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DIAPH1

NM_005219.5:p.S1208_G1209delFs

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_S4.

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.

Gan NS et al.

Audiology & Neuro-otology, 2023

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_

Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.

Ganaha A et al.

American Journal of Medical Genetics. Part A, 2017

Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).

Neuhaus C et al.

Clinical Genetics, 2017

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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."