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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
Journal
Journal of Human Genetics
ISSN
1434-5161
1435-232X
Date Issued
2020
Author(s)
Masamune Sakamoto
Den Kouhei
Muzhirah Haniffa
Sebastián Silva
Mónica Troncoso
Paola Santander
Valeria Schonstedt
STECHER GUZMAN, XIMENA PATRICIA
Facultad de Medicina Clínica Alemana Universidad del Desarrollo
Nobuhiko Okamoto
Kohei Hamanaka
Takeshi Mizuguchi
Satomi Mitsuhashi
Noriko Miyake
Naomichi Matsumoto
Type
Resource Types::text::journal::journal article
DOI
10.1038/s10038-020-0765-3
URL
https://investigadores.udd.cl/handle/123456789/5813
Scopus© citations
14
Acquisition Date
Aug 8, 2024
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Nov 22, 2024
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