Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R69_K70Splc
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MLH1

NM_000249.4:p.R69_K70Splc

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 › MLH1

Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.

Liao C et al.

The International Journal of Biological Markers, 2022

35505597 (PubMed )
Supplement: sj-xlsx-2-jbm-10.1177_03936155221095574.xlsx › germline_mutation

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

Hampel H et al.

Jama Oncology, 2018

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Pearlman R et al.

Jama Oncology, 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."