Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P653fs
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MAGEL2

NM_019066.5:p.P653fs

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

MAGEL2-related disorders: A study and case series.

Patak J et al.

Clinical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."