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Literature summary for 3.1.3.32 extracted from

  • Shen, J.; Gilmore, E.C.; Marshall, C.A.; Haddadin, M.; Reynolds, J.J.; Eyaid, W.; Bodell, A.; Barry, B.; Gleason, D.; Allen, K.; Ganesh, V.S.; Chang, B.S.; Grix, A.; Hill, R.S.; Topcu, M.; Caldecott, K.W.; Barkovich, A.J.; Walsh, C.A.
    Mutations in PNKP cause microcephaly, seizures and defects in DNA repair (2010), Nat. Genet., 42, 245-249.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
PNKP
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Homo sapiens
polynucleotide kinase 3'-phosphatase
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Homo sapiens

General Information

General Information Comment Organism
malfunction mutations result in severe neurological disease Homo sapiens