Variant: rs1057516038

present in Gene: KIAA0586 present in Chromosome: 14 Position on Chromosome: 58444158 Alleles of this Variant: C/A;T

rs1057516038 in KIAA0586 gene and Apnea PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516038 in KIAA0586 gene and Episodic tachypnea PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516038 in KIAA0586 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516038 in KIAA0586 gene and JOUBERT SYNDROME 23 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516038 in KIAA0586 gene and Molar tooth sign on MRI PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.