Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.A1210G
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DIAPH1

NM_005219.5:p.A1210G

Associated Papers

Hearing loss occurs prior to thrombocytopenia in both mice and humans with DFNA1.

Kurasawa S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.

Kim BJ et al.

Journal of Medical Genetics, 2019

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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."