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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DIAPH1

Variant:p.S71_G76del0

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DIAPH1

NM_005219.5:p.S71_G76del0

hg38:chr5:141587115 CCATATGATGCAGAAG>C

Associated Papers

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

Woodward BL et al.

Nature Communications, 2025

40368919 (PubMed )

Supplement: 41467_2025_59553_MOESM1_ESM.pdf

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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."