Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q669*
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MAGEL2

NM_019066.5:p.Q669*

Associated Papers

A nationwide survey of Schaaf-Yang syndrome in Japan.

Negishi Y et al.

Journal of Human Genetics, 2022

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

Mizuno S et al.

Molecular Genetics & Genomic Medicine, 2022

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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."