Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R498fs
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MLH1

NM_000249.4:p.R498fs

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM1_ESM.pdf

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS6

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.

Mensenkamp AR et al.

Gastroenterology, 2014

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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."