Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E41_E44del0
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PMS2

NM_000535.7:p.E41_E44del0

Associated Papers

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.

Kaushik V et al.

Advanced Genetics (hoboken, N.j.), 2021

36618447 (PubMed )
Supplement: GGN2-2-e10039-s001.zip › Google_Scholar_and_Mastermind_Search_Data_-_for_Submission.xlsx › Google_Scholar___Mastermind

Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.

D'Arcy BM et al.

Human Mutation, 2019

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

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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."