PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
PMID 10819326 2000 Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes.
PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
rs752746786 in
GNB1 gene and
Nystagmus
PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
rs752746786 in
GNB1 gene and
Pediatric failure to thrive
PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
rs752746786 in
GNB1 gene and
Seizures
PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
rs752746786 in
GNB1 gene and
Strabismus
PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.