Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.H326Y
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RAD50

NM_005732.4:p.H326Y

Associated Papers

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.

McPherson MT et al.

Cancers, 2020

33339169 (PubMed )
Supplement: cancers-12-03794-s001.pdf

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R et al.

Cell, 1998

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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."