Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G207insFs
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MECP2

NM_001110792.2:p.G207insFs

Associated Papers

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

Shahbazian MD et al.

Current Opinion in Neurology, 2001

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

Bourdon V et al.

Human Genetics, 2001

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Vacca M et al.

Journal of Molecular Medicine (berlin, Germany), 2001

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Bienvenu T et al.

Human Molecular Genetics, 2000

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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."