Variant: rs397515440 

    present in Gene: NUBPL
    present in Chromosome: 14
    Position on Chromosome: 31599310
    Alleles of this Variant: G/T

rs397515440 in NUBPL gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

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

rs397515440 in NUBPL gene and Movement Disorders PMID 19336460 2009 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

PMID 18497740 2008 The iron-sulphur protein Ind1 is required for effective complex I assembly.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.

PMID 12805096 2003 Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

PMID 10214753 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

PMID 23828044 2013 Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 22972949 2012 Complex I deficiency: clinical features, biochemistry and molecular genetics.

PMID 22826544 2012 Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

PMID 21766414 2011 The molecular basis of human complex I deficiency.

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

rs397515440 in NUBPL gene and Muscle hypotonia PMID 23828044 2013 Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

PMID 12805096 2003 Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

PMID 22826544 2012 Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

PMID 22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

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

PMID 10214753 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

PMID 18497740 2008 The iron-sulphur protein Ind1 is required for effective complex I assembly.

PMID 21766414 2011 The molecular basis of human complex I deficiency.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 19336460 2009 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 22972949 2012 Complex I deficiency: clinical features, biochemistry and molecular genetics.

PMID 19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.