Varaico: Literature-Extracted Genetic Variants

Gene:CMPK2
Variant:p.P326S
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CMPK2

NM_207315.4:p.P326S

Associated Papers

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."