×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
GeneticVariation
disease
CLINVAR
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
27959697
2017
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
GeneticVariation
disease
UNIPROT
Clinical and biochemical features associated with BCS1L mutation.
22991165
2013
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
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
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
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
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
Biomarker
disease
GENOMICS_ENGLAND
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
19508421
2009
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
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
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
GeneticVariation
disease
UNIPROT
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
17314340
2007
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
GeneticVariation
disease
UNIPROT
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
17403714
2007
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
GeneticVariation
disease
UNIPROT
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
12910490
2003
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
CausalMutation
disease
CLINVAR
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
12215968
2002
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
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
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
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
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
Biomarker
disease
GENOMICS_ENGLAND
Björnstad syndrome in a patient with mental retardation.
9777342
1998
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
54902
Gene Symbol:
TTC19
TTC19
0.300
Biomarker
disease
GENOMICS_ENGLAND