Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S44P
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MLH1

NM_000249.4:p.S44P

Associated Papers

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Shin G et al.

Genome Medicine, 2021

34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation

Role of mismatch repair proteins in the processing of cisplatin interstrand cross-links.

Sawant A et al.

Dna Repair, 2015

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

Ostergaard JR et al.

American Journal of Medical Genetics. Part A, 2005

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Ellison AR et al.

Nucleic Acids Research, 2004

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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."