Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.T557P
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MSH2

NM_000251.3:p.T557P

Associated Papers

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X et al.

American Journal of Human Genetics, 2021

33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet

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

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Drost M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Cancer risk in 348 French MSH2 or MLH1 gene carriers.

Parc Y et al.

Journal of Medical Genetics, 2003

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