Variant: rs863224228 

    present in Gene: SURF1;SURF2
    present in Chromosome: 9
    Position on Chromosome: 133354661
    Alleles of this Variant: GGCTGGCAGA/AT

rs863224228 in SURF1;SURF2 gene and Leigh Disease PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

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

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 18804471 2008 Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells.