Variant: rs786203983 

    present in Gene: PNKP
    present in Chromosome: 19
    Position on Chromosome: 49862188
    Alleles of this Variant: C/A

rs786203983 in PNKP gene and ATAXIA-OCULOMOTOR APRAXIA 4 PMID 25728773 2015 Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

rs786203983 in PNKP gene and Movement Disorders PMID 7165045 1982 Interface between psychoanalysis and family therapy.

PMID 27232581 2016 Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

PMID 27165045 2017 PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

PMID 24965255 2014 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

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

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

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

PMID 10446192 1999 Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage.