Homo sapiens MAGE family member L2 (MAGEL2), RefSeqGene (LRG_1046) on - Nucleotide

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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes. [Am J Hum Genet. 2024]
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, et al. Am J Hum Genet. 2024 Jul 11; 111(7):1383-1404. Epub 2024 Jun 21.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. [Dis Model Mech. 2023]
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Reznik DL, Yang MV, Albelda de la Haza P, Jain A, Spanjaard M, Theiss S, Schaaf CP, Malovannaya A, Strong TV, Veeraragavan S, et al. Dis Model Mech. 2023 Feb 1; 16(2). Epub 2023 Feb 3.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. [J Med Genet. 2023]
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, et al. J Med Genet. 2023 Apr; 60(4):406-415. Epub 2022 Sep 7.

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Nucleotide