Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S456*
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MLH1

NM_000249.4:p.S456*

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

A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients.

Aiob A et al.

Obstetrics & Gynecology Science, 2023

Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.

Maletzki C et al.

Molecular Carcinogenesis, 2017

Tumor genome analysis includes germline genome: are we ready for surprises?

Catenacci DV et al.

International Journal of Cancer, 2015

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

De Lellis L et al.

Plos One, 2013

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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."