Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J; Gilmore EC; Marshall CA; Haddadin M; Reynolds JJ; Eyaid W; Bodell A; Barry B; Gleason D; Allen K; Ganesh VS; Chang BS; Grix A; Hill RS; Topcu M; Caldecott KW; Barkovich AJ; Walsh CA; Nature Genetics, 2010, vol. 42, issue 3, p 245, ISSN 15461718. ISBN 15461718.

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