Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E102_A103Splc
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MLH1

NM_000249.4:p.E102_A103Splc

Associated Papers

High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.

Yoshida R et al.

Breast Cancer (tokyo, Japan), 2024

39003386 (PubMed )
Supplement: 12282_2024_1615_MOESM3_ESM.xlsx › Table_S3

Pan-tumor validation of a NGS fraction-based MSI analysis as a predictor of response to Pembrolizumab.

Lin DI et al.

Npj Precision Oncology, 2024

39277692 (PubMed )
Supplement: 41698_2024_679_MOESM1_ESM.pdf

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 › MLH1

Clinical and molecular features of pediatric cancer patients with Lynch syndrome.

Scollon S et al.

Pediatric Blood & Cancer, 2022

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

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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."