Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.R255C
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CXXC1

NM_014593.4:p.R255C

Associated Papers

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

Wen Y et al.

Bmc Medicine, 2023

Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.

Le Thi Thanh H et al.

Bmc Medical Genetics, 2018

[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

Li MR et al.

Zhonghua Yi Xue Za Zhi, 2009

[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].

Li MR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.

Wong VC et al.

Journal of Child Neurology, 2007

Detection of heterozygous nonsense mutations in genes of interest using an Escherichia coli-based stop codon assay.

Moon YJ et al.

Biotechnology and Applied Biochemistry, 2007

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

Li MR et al.

Journal of Human Genetics, 2007

[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].

Li MR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

Bao XH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.

Thistlethwaite WA et al.

The Journal of Molecular Diagnostics : Jmd, 2003

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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."