Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss - Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; et al. (The American journal of human genetics, 2021)
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