Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.L279V
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MSH2

NM_000251.3:p.L279V

Associated Papers

Ovarian carcinosarcomas: p53 status defines two distinct patterns of oncogenesis and outcomes.

Dhillon G et al.

Frontiers in Oncology, 2024

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM1_ESM.xlsx › Variants_For_OddsPath

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Rouhani FJ et al.

Nature Genetics, 2022

35953586 (PubMed )
Supplement: 41588_2022_1147_MOESM4_ESM.xlsx › Table_S5_hipsci_cancermut_SNV

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

Germline variant testing in serrated polyposis syndrome.

Murphy A et al.

Journal of Gastroenterology and Hepatology, 2022

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD

Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

Limburg PJ et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2011

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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."