rs80356779
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
A |
0.800 |
CausalMutation |
CLINVAR |
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
|
20696606 |
2011 |
rs28936374
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs28936374
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356776
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356776
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356777
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356777
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356778
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356778
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356779
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356779
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356780
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356780
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356783
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356783
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356784
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356784
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356787
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356787
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356789
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356789
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356790
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356790
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
rs80356793
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
rs80356793
|
Entrez Id: |
1374 |
Gene Symbol: |
CPT1A |
CPT1A
|
Carnitine palmitoyl transferase 1A deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |