Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A289insFs
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MECP2

NM_001110792.2:p.A289insFs

Associated Papers

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Bahi-Buisson N et al.

Molecular Syndromology, 2012

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2008

[Molecular basis of Rett syndrome: A current look].

Pantaleón F G et al.

Revista Chilena De Pediatria, 0

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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."