Variant: rs121918528 

    present in Gene: CPT2
    present in Chromosome: 1
    Position on Chromosome: 53210033
    Alleles of this Variant: A/G

rs121918528 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

PMID 16615913 2006 The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.

PMID 10862092 2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

rs121918528 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET PMID 16615913 2006 The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.

PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

PMID 10862092 2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

rs121918528 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

PMID 16615913 2006 The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.

PMID 10862092 2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

rs121918528 in CPT2 gene and Carnitine palmitoyl transferase 2 deficiency PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

PMID 16615913 2006 The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.

PMID 16781677 2006 Crystal structure of rat carnitine palmitoyltransferase II (CPT-II).

PMID 10862092 2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.