Variant: rs782024654 

    present in Gene: SURF2;SURF1
    present in Chromosome: 9
    Position on Chromosome: 133354713
    Alleles of this Variant: A/G

rs782024654 in SURF2;SURF1 gene and Leigh Disease PMID 10647889 1999 Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 9843204 1998 SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

PMID 22410471 2012 Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

PMID 10746561 2000 Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

PMID 14564068 2001 SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

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