Leigh Disease
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
|
28427446 |
2017 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Proteomics. Tissue-based map of the human proteome.
|
25613900 |
2015 |
Leigh Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
|
25914718 |
2015 |
Leigh Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
|
25895478 |
2015 |
Leigh Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
CLINGEN |
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
|
21274865 |
2011 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
|
19162478 |
2009 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
|
19508421 |
2009 |
Leigh Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
|
19389488 |
2009 |
Leigh Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.
|
10508156 |
1999 |
Leigh Disease
|
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 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Björnstad syndrome in a patient with mental retardation.
|
9777342 |
1998 |
Leigh Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Leigh Disease
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Leigh Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|