Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.K228_F229Splc
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DIAPH1

NM_005219.5:p.K228_F229Splc

Associated Papers

A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss: Mutation in DIAPH1 causes hearing loss.

Feng Q et al.

Gene, 2025

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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."