Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R167W
Back to variants list

MECP2

NM_004992.4:p.R167W

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

Reply to the Comments on "The Use of tDCS in a Patient with MECP2 Gene Mutation Presenting with Recurrent Catatonia: A Case Report".

Adarsh H et al.

Indian Journal of Psychological Medicine, 2024

Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications.

Balicza P et al.

Frontiers in Psychiatry, 2023

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.

Yamamoto T et al.

Human Genome Variation, 2018

Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.

Kharrat M et al.

Journal of Child Neurology, 2017

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Bianciardi L et al.

Journal of Human Genetics, 2016

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

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP et al.

Human Mutation, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."