Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.R111G
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CXXC1

NM_014593.4:p.R111G

Associated Papers

Imaging the binding of MECP2 to DNA.

West AE

Genes & Development, 2023

Quantitative investigation of the effects of DNA modifications and protein mutations on MeCP2-MBD-DNA interactions.

Wang Q et al.

International Journal of Biological Macromolecules, 2023

Neuronal non-CG methylation is an essential target for MeCP2 function.

Tillotson R et al.

Molecular Cell, 2021

33561390 (PubMed )
Supplement: mmc3.pdf

Efficient and versatile CRISPR engineering of human neurons in culture to model neurological disorders.

Shah RR et al.

Wellcome Open Research, 2016

Binding Analysis of Methyl-CpG Binding Domain of MeCP2 and Rett Syndrome Mutations.

Yang Y et al.

Acs Chemical Biology, 2016

Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.

Kucukkal TG et al.

Biochemistry, 2015

Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics.

Kucukkal TG et al.

International Journal of Molecular Sciences, 2014

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

Laccone F et al.

Human Mutation, 2001

MECP2 Mutations in the Rett Syndrome Patients from South India.

Anitha A et al.

Neurology India, 0

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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."