Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R190H
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MECP2

NM_004992.4:p.R190H

Associated Papers

MECP2 MBD-ID Module: A Unified DNA/RNA Binding Interface Disrupted in Rett Syndrome.

Peter JA et al.

Biorxiv : the Preprint Server for Biology, 2026

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Enikanolaiye A et al.

Genome Research, 2020

32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › M_351LL

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

A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome.

Zhou X et al.

Oncotarget, 2017

Monogenic mutations associated with IgA deficiency.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

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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."