Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.L595R
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MSH2

NM_000251.3:p.L595R

Associated Papers

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

39546165 (PubMed )
Supplement: 10689_2024_432_MOESM1_ESM.xlsx › Sheet1

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2

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

Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Tam B et al.

Iscience, 2023

36879825 (PubMed )
Supplement: mmc2.xlsx › MSH2

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

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.

Carlo MI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

Genetic features of Lynch syndrome in the Israeli population.

Goldberg Y et al.

Clinical Genetics, 2015

Lynch Syndrome in high risk Ashkenazi Jews in Israel.

Goldberg Y et al.

Familial Cancer, 2014

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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."