Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P217S
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MECP2

NM_004992.4:p.P217S

Associated Papers

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Giorgio E et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017

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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."