Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.M359insFs
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MLH1

NM_000249.4:p.M359insFs

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 › PMS2

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › PMS2

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Schwenk V et al.

Journal of Medical Genetics, 2023

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Senter L et al.

Gastroenterology, 2008

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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."