Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.E217_G218insC
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MECP2

NM_001110792.2:p.E217_G218insC

Associated Papers

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.

Mok RSF et al.

Translational Psychiatry, 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."