Variant: rs104894103 

    present in Gene: APTX
    present in Chromosome: 9
    Position on Chromosome: 32974495
    Alleles of this Variant: C/G;T

rs104894103 in APTX gene and ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA PMID 12629250 2003 Phenotypic variability of aprataxin gene mutations.

PMID 11586300 2001 The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

PMID 14506070 2003 Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.

PMID 21465257 2011 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

PMID 15790557 2005 Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.

PMID 15699391 2005 Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.

PMID 17242337 2007 Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.

PMID 11176957 2001 Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.