Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.L33insFs
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MECP2

NM_001110792.2:p.L33insFs

Associated Papers

Regulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system.

McGowan H et al.

Cell Regeneration (london, England), 2015

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Maortua H et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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

The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.

Guerra DJ

Autism Research and Treatment, 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

Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.

Santos M et al.

Disease Markers, 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."