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Paper Details

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
45
2016
Autosomal-Recessive Multisystem Syndrome, Cognitive Disability, G protein, G protein subunit 5, GNB5, Sinus Bradycardia, Zebrafish, cardiac, neurological, and ophthalmological abnormalities, eye disease, gastric problems, gastro-esophageal reflux, gnb5, heart-rate disturbance, hypotonia, intellectual disability, loss-of-function alleles, missense variants, retinal disease, seizures, sinus-node dysfunction, speech defects
Author NameAffiliation
Wojciech WiszniewskiBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
William F SimondsNational Institute of Diabetes and Digestive and Kidney Diseases
Vernon R SuttonBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne
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