|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
|
30609409 |
2019 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
|
29790872 |
2018 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
|
28711408 |
2017 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
rs151231558
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
|
23798014 |
2013 |
|
rs151231558
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.
|
22116472 |
2011 |
|
rs151231558
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.
|
22116472 |
2011 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
|
20074989 |
2010 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
rs151231558
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanded newborn screening identifies maternal primary carnitine deficiency.
|
17126586 |
2007 |
|
rs151231558
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
|
rs151231558
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
|
16931768 |
2006 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
|
15714519 |
2005 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
|
15617188 |
2004 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotype and genotype variation in primary carnitine deficiency.
|
11715001 |
2002 |
|
rs151231558
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
|
11058897 |
2000 |