Variant: rs534542684 

    present in Gene: KIAA0586
    present in Chromosome: 14
    Position on Chromosome: 58432439
    Alleles of this Variant: G/-

rs534542684 in KIAA0586 gene and Familial aplasia of the vermis PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

PMID 26437029 2015 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

PMID 26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

PMID 26386247 2015 TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

rs534542684 in KIAA0586 gene and JOUBERT SYNDROME 23 PMID 26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

PMID 26437029 2015 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

PMID 26386247 2015 TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

rs534542684 in KIAA0586 gene and SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY PMID 26437029 2015 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

PMID 26386247 2015 TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

PMID 26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.