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MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Known as: EIEE10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, MCSZ 
National Institutes of Health

Papers overview

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2017
2017
The DNA repair enzyme polynucleotide kinase/phosphatase (PNKP) protects genome integrity by restoring ligatable 5’-phosphate and… 
2011
2011
The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the… 
2010
2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Shen et al. (2010) Nature Genetics 42(3…