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PubMed (cited) for id: 617865
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet. 2017 Dec 7;101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30.
Am J Hum Genet. 2017.
PMID: 29198722
Free PMC article.
Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.
Tischfield DJ, Saraswat DK, Furash A, Fowler SC, Fuccillo MV, Anderson SA.
Tischfield DJ, et al.
Neurobiol Dis. 2017 Jul;103:174-183. doi: 10.1016/j.nbd.2017.04.013. Epub 2017 Apr 19.
Neurobiol Dis. 2017.
PMID: 28433741
Free PMC article.
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