Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.P225R
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CXXC1

NM_014593.4:p.P225R

Associated Papers

Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.

Kamdar P et al.

Journal of Genetics, 2020

The methyl-CpG-binding protein MeCP2 and neurological disease.

Bird A

Biochemical Society Transactions, 2008

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil Y et al.

Journal of Medical Genetics, 2007

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil Y et al.

Journal of Medical Genetics, 2006

Very mild cases of Rett syndrome with skewed X inactivation.

Huppke P et al.

Journal of Medical Genetics, 2006

[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities].

Miura K et al.

No to Hattatsu = Brain and Development, 2005

MECP2 gene mutation analysis in Chinese patients with Rett syndrome.

Pan H et al.

European Journal of Human Genetics : Ejhg, 2002

[Mutational analysis of MECP2 gene in Rett syndrome].

Pan H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP 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."