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Paper Details

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
11
2019
C, C-terminally truncated, Cognitive Impairment, Disorder of Transcriptional Regulation, HDAC3, Marfanoid Habitus, Marfanoid habitus, NKAP, X chromosome gene, behavioral abnormalities, developmental defects, developmental delay, disorder of transcriptional regulation, humans, hypotonia, joint contractures, long genes, nkap mutant, scoliosis, zebrafish
Author NameAffiliation
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonThe Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, USA Center for Applied Genomics
Hakon HakonarsonThe Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, USA Center for Applied Genomics
Margaret HarrCenter for Applied Genomics, The Children's Hospital of Philadelphia
Elaine H ZackaiThe Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania
Marketa Vlckova2nd Faculty of Medicine and University Hospital Motol, Charles University
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