Variant: rs1555773554

present in Gene: CIC present in Chromosome: 19 Position on Chromosome: 42294295 Alleles of this Variant: -/A

rs1555773554 in CIC gene and Muscle hypotonia PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 28288114 2017 Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.