Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R202C
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MECP2

NM_001110792.2:p.R202C

Associated Papers

Identification and prioritization of gene sets associated with schizophrenia risk by network analysis.

Yu M et al.

Psychopharmacology, 2025

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

Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.

Chen CH et al.

Frontiers in Genetics, 2020

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

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Curie A et al.

Psychiatric Genetics, 2017

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.

McCarthy SE et al.

Molecular Psychiatry, 2014

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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."