Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S44fs
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MLH1

NM_000249.4:p.S44fs

Associated Papers

A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome.

Xu J et al.

Cancer Genetics, 2023

Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Golubicki M et al.

Cancers, 2021

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

Golubicki M et al.

Jci Insight, 2020

32841224 (PubMed )
Supplement: jciinsight-5-140698-s239.pdf

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 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."