Associated Papers
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
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
Matsumoto Y et al.
Dna Repair, 2011
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