Varaico: Literature-Extracted Genetic Variants

Gene:GABBR1
Variant:p.A20V
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GABBR1

NM_001470.4:p.A20V

Associated Papers

Association between Single Nucleotide Polymorphisms in Gamma-Aminobutyric Acid B Receptor, Insulin Receptor Substrate-1, and Hypocretin Neuropeptide Precursor Genes and Susceptibility to Obstructive Sleep Apnea Hypopnea Syndrome in a Chinese Han Population.

Li Z et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A082-01A.domain

Frequency of distribution of leptin receptor gene polymorphism in obstructive sleep apnea patients.

Popko K et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2007

Systematic study of association of four GABAergic genes: glutamic acid decarboxylase 1 gene, glutamic acid decarboxylase 2 gene, GABA(B) receptor 1 gene and GABA(A) receptor subunit beta2 gene, with schizophrenia using a universal DNA microarray.

Zhao X et al.

Schizophrenia Research, 2007

Association of GABA(B)R1 receptor gene polymorphism with obstructive sleep apnea syndrome.

Bayazit YA et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 2007

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

Ma S et al.

Bmc Medical Genetics, 2005

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.

Gambardella A et al.

Neurology, 2003

Association of EEG coherence and an exonic GABA(B)R1 gene polymorphism.

Winterer G et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2003

Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients.

Winterer G et al.

Behavior Genetics, 2003

Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia.

Imai K et al.

American Journal of Medical Genetics, 2002

Human GABA(B) receptor 1 gene: eight novel sequence variants.

Hisama FM et al.

Human Mutation, 2001

Exonic variants of the GABA(B) receptor gene and panic disorder.

Sand PG et al.

Psychiatric Genetics, 2000

Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy.

Sander T et al.

American Journal of Medical Genetics, 1999

Association analysis of exonic variants of the gene encoding the GABAB receptor and alcohol dependence.

Sander T et al.

Psychiatric Genetics, 1999

Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy.

Peters HC et al.

Neurogenetics, 1998

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