Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.R353*
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CIC

NM_015125.5:p.R353*

Associated Papers

CIC missense variants contribute to susceptibility for spina bifida.

Han X et al.

Human Mutation, 2022

Novel CIC variants identified in individuals with neurodevelopmental phenotypes.

Sharma S et al.

Human Mutation, 2022

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.

Cao X et al.

Journal of Medical Genetics, 2021

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC et al.

Nature Genetics, 2017

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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."