Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.G1139_Q1146delFs
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MSH6

NM_000179.3:p.G1139_Q1146delFs

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › RNA_splicing

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
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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."