Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E7delFs
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MSH2

NM_000251.3:p.E7delFs

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

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Aziz S et al.

Familial Cancer, 2023

36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants

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

A rare concurrence of Muir-Torre-associated sebaceous carcinoma in the setting of a lipedematous scalp.

Shanks A et al.

Case Reports in Plastic Surgery & Hand Surgery, 2020

Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome.

Tresallet C et al.

International Journal of Cancer, 2012

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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."