MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
|
12210323 |
2002 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
|
12210323 |
2002 |
MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Pericardial effusion in primary systemic carnitine deficiency.
|
16830263 |
2006 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Pericardial effusion in primary systemic carnitine deficiency.
|
16830263 |
2006 |
MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
|
16652335 |
2006 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Phenotype and genotype variation in primary carnitine deficiency.
|
11715001 |
2002 |
MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
|
23430798 |
2013 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
|
23430798 |
2013 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.
|
23963628 |
2014 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
|
23430858 |
2012 |
MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
|
23379544 |
2014 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
|
23379544 |
2014 |
MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
|
9916797 |
1999 |
MIR3936HG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.
|
27896095 |
2014 |
MIR3936HG
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
|
15714519 |
2005 |