Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S387F
Back to variants list

MECP2

NM_001110792.2:p.S387F

Associated Papers

Methyl-CpG binding protein 2 dysfunction provides stress vulnerability with sex- and zygosity-dependent outcomes.

Cosentino L et al.

The European Journal of Neuroscience, 2022

Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.

Bhanushali AA et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2016

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Bienvenu T et al.

Nature Reviews. Genetics, 2006

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

Miltenberger-Miltenyi G et al.

Human Mutation, 2003

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."