Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K70_E71delFs
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MLH1

NM_000249.4:p.K70_E71delFs

Associated Papers

Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis.

Pussila M et al.

Ebiomedicine, 2024

38583260 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_1

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.

Shigeyasu K et al.

Surgery Today, 2014

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M et al.

Clinical Chemistry, 2008

Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer.

De Felice C et al.

Gut, 2006

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

McVety S et al.

Journal of Medical Genetics, 2006

Fordyce granules and hereditary non-polyposis colorectal cancer syndrome.

De Felice C et al.

Gut, 2005

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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."