Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P73P
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MAGEL2

NM_019066.5:p.P73P

Associated Papers

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.

Akamine S et al.

Epilepsia Open, 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."