|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
|
24516753 |
2014 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
|
15617188 |
2004 |
|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
|
21126579 |
2011 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
|
26589311 |
2016 |
|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
|
25132046 |
2014 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
|
21126579 |
2011 |
|
rs72552726
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
|
25132046 |
2014 |
|
rs72552726
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
|
15617188 |
2004 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
|
15617188 |
2004 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
|
10679939 |
2000 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
|
10559218 |
1999 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
|
10480371 |
1999 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
|
10425211 |
1999 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
|
11058897 |
2000 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
|
10072434 |
1999 |
|
rs72552726
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
|
16931768 |
2006 |