DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Darin N, Reid E, Prunetti L. , et al.
Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy.
Am J Hum Genet 2016;
99 (06) 1325-1337
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