Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D526fs
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PMS2

NM_000535.7:p.D526fs

Associated Papers

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.

Tan S et al.

Bmc Medical Genomics, 2021

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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."