Variant: rs587784365 

    present in Gene: PNKP
    present in Chromosome: 19
    Position on Chromosome: 49861800
    Alleles of this Variant: -/GTCGATGGCGACCCGTT

rs587784365 in PNKP gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 PMID 22508754 2012 Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

PMID 23224214 2013 Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 20118933 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

PMID 25728773 2015 Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.