Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.H264Splc
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MLH1

NM_000249.4:p.H264Splc

Associated Papers

Comparative Analysis of Comprehensive Genomic Profile in Thymomas and Recurrent Thymomas Reveals Potentially Actionable Mutations for Target Therapies.

Lococo F et al.

International Journal of Molecular Sciences, 2024

39273507 (PubMed )
Supplement: ijms-25-09560-s001.zip › Supplementary_Table_S1.pdf

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

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients.

Sloane MA et al.

Clinical Epigenetics, 2014

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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."