Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.I700N
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DIAPH1

NM_005219.5:p.I700N

Associated Papers

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

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Chiereghin C et al.

Cells, 2022

Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1).

Lakha R et al.

Biochemistry, 2021

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."