Variant: rs753670589 

    present in Gene: IQCE
    present in Chromosome: 7
    Position on Chromosome: 2593110
    Alleles of this Variant: C/T

rs753670589 in IQCE gene and Multiple congenital anomalies PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

PMID 9399901 1997 Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

PMID 18799693 2008 Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 25348401 2015 The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease.

PMID 23719536 2013 The mechanisms of Hedgehog signalling and its roles in development and disease.

PMID 22981989 2012 A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.

PMID 28224613 2017 GLI3-related polydactyly: a review.

PMID 3719536 1986 The cure of childhood cancers.

PMID 27626380 2016 High-throughput discovery of novel developmental phenotypes.

PMID 24582806 2014 EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

PMID 28488682 2017 Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.