Varaico: Literature-Extracted Genetic Variants

Gene:MRC1
Variant:p.R244K
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MRC1

NM_002438.4:p.R244K

Associated Papers

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Guan Y et al.

Scientific Reports, 2025

41044115 (PubMed )
Supplement: 41598_2025_17881_MOESM1_ESM.pdf

Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

Choi YH et al.

Hereditary Cancer in Clinical Practice, 2009

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Lastella P et al.

Bmc Genomics, 2006

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene.

Blasi MF et al.

Cancer Research, 2006

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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."