Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A251A
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MECP2

NM_001110792.2:p.A251A

Associated Papers

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K et al.

Journal of Human Genetics, 2011

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH et al.

Journal of Child Neurology, 2004

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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."