Variant: rs137852863 

    present in Gene: NDUFAF2
    present in Chromosome: 5
    Position on Chromosome: 61073136
    Alleles of this Variant: C/T

rs137852863 in NDUFAF2 gene and Leigh Disease PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

rs137852863 in NDUFAF2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs137852863 in NDUFAF2 gene and Multiple congenital anomalies PMID 22644603 2012 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

PMID 10649489 2000 Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18180188 2008 The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

PMID 19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

PMID 16950771 2006 Bovine complex I is a complex of 45 different subunits.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

rs137852863 in NDUFAF2 gene and Muscle hypotonia PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 22644603 2012 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

PMID 10649489 2000 Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

PMID 19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

PMID 18180188 2008 The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

PMID 16950771 2006 Bovine complex I is a complex of 45 different subunits.

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.