Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.T252insFs
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MECP2

NM_001110792.2:p.T252insFs

Associated Papers

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J et al.

Clinical Genetics, 2012

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Schüle B et al.

Clinical Genetics, 2008

Mutation analysis in Rett syndrome.

Milunsky JM et al.

Genetic Testing, 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."