Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q215_I216Splc
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MSH2

NM_000251.3:p.Q215_I216Splc

Associated Papers

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Karam R et al.

Jama Network Open, 2019

31642931 (PubMed )
Supplement: jamanetwopen-2-e1913900-s001.pdf

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Kiyozumi Y et al.

Cancer Medicine, 2019

31386297 (PubMed )
Supplement: CAM4-8-5534-s001.xlsx › Suppllemental_file_1_
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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."