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

Jun Shen, Edward C Gilmore, Christine A Marshall, Mary Haddadin, John J Reynolds, Wafaa Eyaid, Adria Bodell, Brenda Barry, Danielle Gleason, Kathryn Allen, Vijay S Ganesh, Bernard S Chang, Arthur Grix, R Sean Hill, Meral Topcu, Keith W Caldecott, A James Barkovich, Christopher A Walsh

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Medicine & Life Sciences