Varaico: Literature-Extracted Genetic Variants

Gene:PRKDC
Variant:p.L3027insFs
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PRKDC

NM_006904.7:p.L3027insFs

Associated Papers

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G et al.

American Journal of Medical Genetics. Part A, 2004

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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."