Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K47_K48insAGG
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MECP2

NM_001110792.2:p.K47_K48insAGG

Associated Papers

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

Nectoux J et al.

Clinical Genetics, 2006

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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."