Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.F778fs
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PMS2

NM_000535.7:p.F778fs

Associated Papers

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.

Cappadocia J et al.

Genetics in Medicine Open, 2024

39669620 (PubMed )
Supplement: mmc1.pdf

Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

Rosenblum RE et al.

Jco Precision Oncology, 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."