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Paper Details

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
81
2016
G, G binding sites, G protein, G-G, GNB1, GNB1 mutation, Hypotonia, Neurodevelopmental Disability, Seizures, abnormal muscle tone, developmental delay, genetic disorders, guanine nucleotide, guanine nucleotide-binding protein subunit beta-1, neurodevelopmental disorder, seizures, tumor
Author NameAffiliation
James J RivielloInstitute for Genomic Medicine, Columbia University
Susan SchelleyStanford University School of Medicine
Gregory M EnnsStanford University School of Medicine
Erin L HeinzenInstitute for Genomic Medicine, Columbia University
Theresa A GrebePhoenix Children's Hospital and Department of Child Health, University of Arizona College of Medicine
Jonathan A BernsteinStanford University School of Medicine
Ingrid E SchefferUniversity of Melbourne, Australia Florey Institute for Neuroscience and Mental Health, Royal Children's Hospital
David B GoldsteinInstitute for Genomic Medicine, Columbia University
David B GoldsteinInstitute for Genomic Medicine, Columbia University
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