Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.T196S
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MECP2

NM_004992.4:p.T196S

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

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Sheikh TI et al.

Human Mutation, 2018

MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution.

Viana MC et al.

Bmc Genetics, 2015

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D et al.

Journal of Human Genetics, 2007

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.

Bzduch V et al.

Bratislavske Lekarske Listy, 2004

[Analysis of the most frequent mutations in girls with Rett syndrome].

Rosipal R et al.

Casopis Lekaru Ceskych, 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."