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A novel ITPA variant causes epileptic encephalopathy with m..:
Sakamoto, Masamune
;
Kouhei, Den
;
Haniffa, Muzhirah
...
Journal of Human Genetics (2020). , 2020
Link:
https://doi.org/10.1038/s10038-020-0765-3
RT Journal T1
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
UL https://suche.suub.uni-bremen.de/peid=base-ftunivchile:oai:repositorio.uchile.cl:2250_175341&Exemplar=1&LAN=DE A1 Sakamoto, Masamune A1 Kouhei, Den A1 Haniffa, Muzhirah A1 Silva, Sebastián A1 Troncoso Schifferli, Mónica A1 Santander Vidal, Paola A1 Schonstedt, Valeria A1 Stecher, Ximena A1 Okamoto, Nobuhiko A1 Hamanaka, Kohei A1 Mizuguchi, Takeshi A1 Mitsuhashi, Satomi A1 Miyake, Noriko A1 Matsumoto, Naomichi PB Nature YR 2020 K1 Mutations cause JF Journal of Human Genetics (2020) LK http://dx.doi.org/https://doi.org/10.1038/s10038-020-0765-3 DO https://doi.org/10.1038/s10038-020-0765-3 SF ELIB - SuUB Bremen
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