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PubMed (GeneRIF) for id: 54676
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20.
Am J Hum Genet. 2024.
PMID: 38118446
Free PMC article.
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.
Carter MT, et al.
Clin Genet. 2019 May;95(5):601-606. doi: 10.1111/cge.13523. Epub 2019 Mar 19.
Clin Genet. 2019.
PMID: 30790272
Review.
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Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.
Zinoviev A, Goyal A, Jindal S, LaCava J, Komar AA, Rodnina MV, Hellen CUT, Pestova TV.
Zinoviev A, et al.
Genes Dev. 2018 Sep 1;32(17-18):1226-1241. doi: 10.1101/gad.314724.118. Epub 2018 Aug 14.
Genes Dev. 2018.
PMID: 30108131
Free PMC article.
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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, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P.
Bertoli-Avella AM, et al.
Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.
Eur J Hum Genet. 2018.
PMID: 29449720
Free PMC article.
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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, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E.
Jaberi E, et al.
Neurobiol Aging. 2016 Feb;38:216.e11-216.e18. doi: 10.1016/j.neurobiolaging.2015.10.034. Epub 2015 Nov 6.
Neurobiol Aging. 2016.
PMID: 26675814
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