Varaico: Literature-Extracted Genetic Variants

Gene:CXXC1
Variant:p.P225L
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CXXC1

NM_014593.4:p.P225L

Associated Papers

MECP2 mutations in males.

Villard L

Journal of Medical Genetics, 2007

Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation.

Dotti MT et al.

Journal of Child Neurology, 2004

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Moog U et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2003

Wolf-Hirschhorn (4P-) syndrome in adults.

Marcelis C et al.

Genetic Counseling (geneva, Switzerland), 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."