Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K52delFs
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MLH1

NM_000249.4:p.K52delFs

Associated Papers

Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.

Loong L et al.

Journal of Medical Genetics, 2024

39433398 (PubMed )
Supplement: jmg-61-12-s001.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

Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200 Participants.

Ahmed S et al.

Cancer Research Communications, 2023

Polygenic early-onset colorectal cancer in pediatric patients.

Phen C et al.

Pediatric Blood & Cancer, 2022

A cancer vaccine approach for personalized treatment of Lynch Syndrome.

Majumder S et al.

Scientific Reports, 2018

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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."