Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K732*
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MLH1

NM_000249.4:p.K732*

Associated Papers

Generation of two induced pluripotent stem cell lines from Lynch syndrome patients carrying heterozygous MLH1 mutations.

Hu E et al.

Stem Cell Research, 2025

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

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

Discrepancies between tumor genomic profiling and germline genetic testing.

Pauley K et al.

Esmo Open, 2022

Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.

Cadoo KA et al.

Jco Precision Oncology, 2019

Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.

Svec J et al.

International Journal of Clinical and Experimental Pathology, 2014

Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.

Hajer J et al.

Human Mutation, 2000

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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."