Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2018.07.010
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September 1, 2018
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Elsevier BV