Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.A454T
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MAGEL2

NM_019066.5:p.A454T

Associated Papers

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Negishi Y et al.

Orphanet Journal of Rare Diseases, 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."