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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, …
American journal of human genetics, Vol.108(10), pp.2006-2016
07/10/2021
PMID: 34626583

Résumé

AAA+ superfamily ATPase cerebral palsy epilepsy intellectual disability movement disorder neurodevelopmental disorder sensorineural hearing loss SPATA5L1

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