Varaico: Literature-Extracted Genetic Variants

Gene:MRE11
Variant:p.R366_V367Splc
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MRE11

NM_005591.4:p.R366_V367Splc

Associated Papers

An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.

Tarapara B et al.

Journal of Biomolecular Structure & Dynamics, 2023

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

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

Regal JA et al.

Human Molecular Genetics, 2013

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