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Journal Abstract Search

252 related items for PubMed ID: 26421802

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  • 3. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
    Gumus E.
    Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336
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  • 7. Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.
    Khalesi R, Razmara E, Asgaritarghi G, Tavasoli AR, Riazalhosseini Y, Auld D, Garshasbi M.
    BMC Neurol; 2021 Apr 28; 21(1):180. PubMed ID: 33910511
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  • 8. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).
    Wiedmer M, Oevermann A, Borer-Germann SE, Gorgas D, Shelton GD, Drögemüller M, Jagannathan V, Henke D, Leeb T.
    G3 (Bethesda); 2015 Nov 23; 6(2):255-62. PubMed ID: 26596647
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  • 9. Consanguinity as an Adjunct Diagnostic Tool.
    Srivastava P, Saxena D, Joshi S, Phadke SR.
    Indian J Pediatr; 2016 Mar 23; 83(3):258-60. PubMed ID: 26138576
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  • 14. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
    Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C.
    Hum Genet; 2011 Jan 23; 129(1):45-50. PubMed ID: 20967465
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  • 15. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
    Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M.
    Am J Med Genet A; 2015 Jun 23; 167(6):1243-51. PubMed ID: 25899426
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  • 20. [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].
    Yang D, Wang X, Yang J, Liu D, Li D.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec 10; 37(12):1384-1386. PubMed ID: 33306828
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