Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.N553K
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MSH2

NM_000251.3:p.N553K

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

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

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