rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
|
23553477 |
2013 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.
|
23828044 |
2013 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Complex I deficiency: clinical features, biochemistry and molecular genetics.
|
22972949 |
2012 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
|
22072591 |
2012 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.
|
22826544 |
2012 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The molecular basis of human complex I deficiency.
|
21766414 |
2011 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.
|
19752196 |
2009 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
|
19336460 |
2009 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The iron-sulphur protein Ind1 is required for effective complex I assembly.
|
18497740 |
2008 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular findings in children with complex I deficiency.
|
15576045 |
2004 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Minimum birth prevalence of mitochondrial respiratory chain disorders in children.
|
12805096 |
2003 |
rs118161496
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.
|
10214753 |
1999 |