Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.P593delFs
Back to variants list

MLH1

NM_000249.4:p.P593delFs

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 › MLH1

Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis.

Haraldsdottir S et al.

Familial Cancer, 2016

The frequency of Muir-Torre syndrome among Lynch syndrome families.

South CD et al.

Journal of the National Cancer Institute, 2008

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Hampel H et al.

The New England Journal of Medicine, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."