guanine nucleotide-binding protein G(t) subunit alpha-1 [Homo sapiens]

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Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. [Ophthalmic Genet. 2019]
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, et al. Ophthalmic Genet. 2019 Oct; 40(5):480-487. Epub 2019 Nov 7.
Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association. [Doc Ophthalmol. 2018]
Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
Marmor MF, Zeitz C. Doc Ophthalmol. 2018 Aug; 137(1):57-62. Epub 2018 Jul 26.
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. [Br J Ophthalmol. 2016]
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ. Br J Ophthalmol. 2016 Apr; 100(4):495-500. Epub 2015 Oct 15.

RefSeq genomic sequence
See the genomic reference sequence for the GNAT1 gene (NG_009831.1).
RefSeq protein isoforms
See the other reference sequence protein isoform for the GNAT1 gene (NP_000163.2).

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NP_653082 [Domain Mapping of Disease Mut...]
NP_653082
Domain Mapping of Disease Mutations
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Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagents
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Protein