Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.A123delFs
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MSH2

NM_000251.3:p.A123delFs

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature.

Yang Y et al.

Journal of Kidney Cancer and Vhl, 2021

Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression.

Therkildsen C et al.

International Journal of Urology : Official Journal of the Japanese Urological Association, 2016

27168032 (PubMed )
Supplement: supplement_1.xlsx › Ark1

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

Bisgaard ML et al.

Human Mutation, 2002

[Registration of hereditary non-polyposis colorectal cancer].

Bernstein IT et al.

Ugeskrift for Laeger, 1999

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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."