Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.P769S
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DIAPH1

NM_005219.5:p.P769S

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

37344829 (PubMed )
Supplement: 13073_2023_1192_MOESM1_ESM.xlsx › Sheet2

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Shamseldin HE et al.

Genome Medicine, 2021

34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
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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."