Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G118E
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MECP2

NM_004992.4:p.G118E

Associated Papers

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.

Cooley Coleman JA 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."