MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
|
27959697 |
2017 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and biochemical features associated with BCS1L mutation.
|
22991165 |
2013 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
|
21274865 |
2011 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
|
19162478 |
2009 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
|
19508421 |
2009 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
|
18628306 |
2008 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
|
17403714 |
2007 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
|
12910490 |
2003 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
|
12215968 |
2002 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
|
9878253 |
1998 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Björnstad syndrome in a patient with mental retardation.
|
9777342 |
1998 |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|