Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.G98D
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MLH1

NM_000249.4:p.G98D

Associated Papers

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

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Hechtman JF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome.

Barrow E et al.

Histopathology, 2010

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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."