Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q666*
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MAGEL2

NM_019066.5:p.Q666*

Associated Papers

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Huang Z et al.

Annals of Translational Medicine, 2023

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

Castilla-Vallmanya L et al.

Journal of Medical Genetics, 2023

A nationwide survey of Schaaf-Yang syndrome in Japan.

Negishi Y et al.

Journal of Human Genetics, 2022

Schaaf-Yang syndrome overview: Report of 78 individuals.

McCarthy J et al.

American Journal of Medical Genetics. Part A, 2018

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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."