Varaico: Literature-Extracted Genetic Variants

Gene:PLD1
Variant:p.R917H
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PLD1

NM_002662.5:p.R917H

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sapp.pdf

Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.

Ferreira EN et al.

Translational Oncology, 2019

31419696 (PubMed )
Supplement: mmc1.xlsx › Table_S3
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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."