Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S676L
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MSH2

NM_000251.3:p.S676L

Associated Papers

Disease variant prediction with deep generative models of evolutionary data.

Frazer J et al.

Nature, 2021

Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition.

Nielsen SV et al.

Plos Genetics, 2021

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

Drug-sensitive FGFR3 mutations in lung adenocarcinoma.

Chandrani P et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

27998968 (PubMed )
Supplement: mdw636_supp.zip › Chandrani_et_al._suppl_tables_20161110.xlsx › S3.Variants

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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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."