Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.E226insFs
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MECP2

NM_001110792.2:p.E226insFs

Associated Papers

First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature.

Gharesouran J et al.

Epilepsy & Behavior Case Reports, 2015

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K et al.

Orphanet Journal of Rare Diseases, 2011

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.

Zhu X et al.

Journal of Child Neurology, 2010

[Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].

Zhu XW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Jiang SL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.

Shahbazian MD et al.

Current Opinion in Neurology, 2001

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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."