Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.N705K
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MAGEL2

NM_019066.5:p.N705K

Associated Papers

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.

Lok A et al.

American Journal of Medical Genetics. Part A, 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."