Varaico: Literature-Extracted Genetic Variants

Gene:MRE11
Variant:p.T481I
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MRE11

NM_005591.4:p.T481I

Associated Papers

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.

Elkholi IE et al.

Scientific Reports, 2021

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

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F et al.

Breast Cancer Research : Bcr, 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."