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PubMed (cited) for id: 616632
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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.
Am J Med Genet A. 2016.
PMID: 26463574
Free PMC article.
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW.
Ercan-Sencicek AG, et al.
Eur J Hum Genet. 2015 Feb;23(2):165-72. doi: 10.1038/ejhg.2014.82. Epub 2014 Apr 30.
Eur J Hum Genet. 2015.
PMID: 24781755
Free PMC article.
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