Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S299R
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MLH1

NM_000249.4:p.S299R

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 › MSH2

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

Tam B et al.

International Journal of Molecular Sciences, 2024

38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

[Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].

Wielandt AM et al.

Revista Medica De Chile, 2012

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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."