Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.Q244*
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CXXC1

NM_014593.4:p.Q244*

Associated Papers

Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome.

Kim KY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Hoffbuhr K et al.

Neurology, 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."