Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.P270S
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CXXC1

NM_014593.4:p.P270S

Associated Papers

Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.

Le Thi Thanh H et al.

Bmc Medical Genetics, 2018

Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.

Cardoza B et al.

Seizure, 2011

[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

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

MECP2 mutation screening in Swedish classical Rett syndrome females.

Erlandson A et al.

European Child & Adolescent Psychiatry, 2001

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

Huppke P et al.

Human Molecular Genetics, 2000

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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."