Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K618delFs
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MLH1

NM_000249.4:p.K618delFs

Associated Papers

Neuroendocrine neoplasms as a lynch syndrome manifestation: a case report and comprehensive literature review.

Bernal Zárate MP et al.

Frontiers in Endocrinology, 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

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Di Rado S et al.

Cancers, 2023

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD et al.

Familial Cancer, 2011

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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."