Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.M729I
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MSH2

NM_000251.3:p.M729I

Associated Papers

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B et al.

Bmc Cancer, 2021

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde KJ et al.

Human Mutation, 2015

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

Kraus C et al.

International Journal of Cancer, 2015

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD et al.

Familial Cancer, 2011

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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."