Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Nature Genetics2010Vol. 42(3), pp. 245–249
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Jun Shen, Edward C. Gilmore, Christine A Marshall, Mary Haddadin, John J. Reynolds, Wafaa Eyaid, Adria Bodell, Brenda J. Barry, Danielle Gleason, Kathryn Allen, Vijay Ganesh, Bernard S. Chang, Arthur Grix, Robert Hill, Meral Topçu, Keith W. Caldecott, A. James Barkovich, Christopher A. Walsh
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