Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A299A
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MECP2

NM_001110792.2:p.A299A

Associated Papers

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.

Bach S et al.

Scientific Reports, 2020

33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504

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

[Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients].

Wang SM et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2013

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.

Santos M et al.

Journal of Child Neurology, 2009

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.

Tejada MI et al.

Clinical Genetics, 2006

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

Miltenberger-Miltenyi G et al.

Human Mutation, 2003

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

Winnepenninckx B et al.

Human Mutation, 2002

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

Laccone F et al.

Human Mutation, 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

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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."