GTP-binding protein 2 isoform X3 [Homo sapiens]

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Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature. [Clin Genet. 2019]
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Carter MT, Venkateswaran S, Shapira-Zaltsberg G, Davila J, Humphreys P, Care4Rare Canada Consortium, Kernohan KD, Boycott KM. Clin Genet. 2019 May; 95(5):601-606. Epub 2019 Mar 19.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. [Eur J Hum Genet. 2018]
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, et al. Eur J Hum Genet. 2018 Apr; 26(4):592-598. Epub 2018 Feb 15.
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. [Neurobiol Aging. 2016]
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.
Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, Carrami EM, et al. Neurobiol Aging. 2016 Feb; 38:216.e11-216.e18. Epub 2015 Nov 6.

RefSeq genomic sequence
See the genomic reference sequence for the GTPBP2 gene (NG_028283.4).
RefSeq mRNA
See reference mRNA sequence for the GTPBP2 gene (XM_024446478.2).

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GTP-binding protein 2 isoform X3 [Homo sapiens]
GTP-binding protein 2 isoform X3 [Homo sapiens]
gi|1370508241|ref|XP_024302246.1|

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