Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.H378_H380delFs
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MECP2

NM_001110792.2:p.H378_H380delFs

Associated Papers

Novel double deletions in the MECP2 gene in Tunisian Rett patient.

Fendri-Kriaa N et al.

Gene, 2012

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

Fendri-Kriaa N et al.

Biochemical and Biophysical Research Communications, 2011

Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.

Fendri-Kriaa N et al.

Journal of Child Neurology, 2010

Multiple de novo mutations in the MECP2 gene.

Bunyan DJ et al.

Genetic Testing, 2008

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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."