Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P664Fs
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MAGEL2

NM_019066.5:p.P664Fs

Associated Papers

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Castilla-Vallmanya L et al.

Journal of Medical Genetics, 2023

36243518 (PubMed )
Supplement: jmg-2022-108690supp004.xlsx › Suppl._Table_4

Schaaf-Yang syndrome overview: Report of 78 individuals.

McCarthy J et al.

American Journal of Medical Genetics. Part A, 2018

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