Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.A6insFs
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PNKP

NM_007254.4:p.A6insFs

Associated Papers

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Shen J et al.

Nature Genetics, 2010

20118933 (PubMed )
Supplement: NIHMS167247-supplement-1.pdf
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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."