Varaico: Literature-Extracted Genetic Variants

Gene:MRE11
Variant:p.D113G
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MRE11

NM_005591.4:p.D113G

Associated Papers

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Hartlerode AJ et al.

Human Molecular Genetics, 2024

Post-Translational Modification of MRE11: Its Implication in DDR and Diseases.

Lu R et al.

Genes, 2021

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

Rahman S et al.

Cells, 2020

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.

Fiévet A et al.

Human Mutation, 2019

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Sedghi M et al.

Neurology. Genetics, 2018

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling.

Schiller CB et al.

Nature Structural & Molecular Biology, 2012

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

Matsumoto Y et al.

Dna Repair, 2011

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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."