Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q689*
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MLH1

NM_000249.4:p.Q689*

Associated Papers

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › Replicate_correlation

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

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."