Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.V392V
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MECP2

NM_001110792.2:p.V392V

Associated Papers

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

Chae JH et al.

Journal of Child Neurology, 2004

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

Miltenberger-Miltenyi G et al.

Human Mutation, 2003

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Chae JH et al.

Journal of Child Neurology, 2002

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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."