rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
|
22644603 |
2012 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
|
20571988 |
2010 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
|
19384974 |
2009 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
The unique neuroradiology of complex I deficiency due to NDUFA12L defect.
|
18180188 |
2008 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bovine complex I is a complex of 45 different subunits.
|
16950771 |
2006 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
|
16200211 |
2005 |
rs137852863
|
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
|
10649489 |
2000 |