Variant: rs782190413 

    present in Gene: SURF1
    present in Chromosome: 9
    Position on Chromosome: 133352708
    Alleles of this Variant: G/A

rs782190413 in SURF1 gene and Leigh Disease PMID 24027061 2013 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

PMID 16542579 2006 Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

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

PMID 12515039 2002 [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

PMID 27896082 2014 A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

rs782190413 in SURF1 gene and SURF1-related Charcot-Marie-Tooth disease type 4 PMID 24027061 2013 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.