Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.R237delFs
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CXXC1

NM_014593.4:p.R237delFs

Associated Papers

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.

Zhu X et al.

Journal of Child Neurology, 2010

[Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].

Zhu XW et al.

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

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Jiang SL et al.

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

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

Laccone F et al.

Human Mutation, 2001

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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."