The American Journal of Human Genetics
Volume 108, Issue 10, 7 October 2021, Pages 2006-2016
ReportBi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
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Keywords
neurodevelopmental disorder
movement disorder
cerebral palsy
epilepsy
SPATA5L1
intellectual disability
AAA+ superfamily
ATPase
sensorineural hearing loss
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