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3-Methylglutaconic aciduria type 3
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
No genes found
No SNPs found
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Pathway Enrichment
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Curated Studies
Most Correlated Studies
OMIM - Congenital disorder
OMIM - Disorder of amino acid metabolism
OMIM - Metabolic and Enzymatic Disorders
Cardiac gene expression in an inducible tafazzin shRNA knockdown mouse model of Barth syndrome
Dermal fibroblasts from pediatric patients with dilated cardiomyopathy with ataxia syndrome
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Literature
Most Relevant Literature
Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in …
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an …
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-l…
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There were no clinical trials for 3-Methylglutaconic aciduria type 3
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