A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
Sakamoto, Masamune, Kouhei, Den, Haniffa, Muzhirah, Silva, Sebastián, Troncoso, Mónica, Santander, Paola, Schonstedt, Valeria, Stecher, Ximena, Okamoto, Nobuhiko, Hamanaka, Kohei, Mizuguchi, TakeshiJournal:
Journal of Human Genetics
DOI:
10.1038/s10038-020-0765-3
Date:
May, 2020
File:
PDF, 1.06 MB
2020