Variant: rs1114167423 

    present in Gene: APTX
    present in Chromosome: 9
    Position on Chromosome: 32984704
    Alleles of this Variant: T/A

rs1114167423 in APTX gene and ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Athetosis PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Cerebellar Ataxia PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Dysarthria PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Oculomotor apraxia PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Reduced tendon reflexes PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.