Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.P704fs
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DIAPH1

NM_005219.5:p.P704fs

Associated Papers

Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.

Naqvi AS et al.

Biorxiv : the Preprint Server for Biology, 2025

39149264 (PubMed )
Supplement: media-5.xlsx › E_sf_mutations

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

Woodward BL et al.

Nature Communications, 2025

Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.

Warner EW et al.

Nature Cancer, 2024

38177459 (PubMed )
Supplement: 43018_2023_692_MOESM11_ESM.xlsx › Sheet1

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L et al.

Orphanet Journal of Rare Diseases, 2020

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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."