Variant: rs1554768709 

    present in Gene: SURF2;SURF1
    present in Chromosome: 9
    Position on Chromosome: 133354824
    Alleles of this Variant: C/G

rs1554768709 in SURF2;SURF1 gene and Dysmorphic features PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

rs1554768709 in SURF2;SURF1 gene and Movement Disorders PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.