|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
|
28711408 |
2017 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
|
23798014 |
2013 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Effects of stimulus distance on measurements of dark convergence.
|
2216472 |
1990 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
|
29790872 |
2018 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
|
Renal carnitine transport defect
|
|
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 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
|
30609409 |
2019 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
Renal carnitine transport defect
|
|
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 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
|
11058897 |
2000 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
|
10612840 |
2000 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
|
10545605 |
1999 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotype and genotype variation in primary carnitine deficiency.
|
11715001 |
2002 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
|
10072434 |
1999 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
|
15617188 |
2004 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
|
15714519 |
2005 |