Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy (Q37230693)
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scientific article published on 17 August 2016
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English | Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy |
scientific article published on 17 August 2016 |
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy (English)
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Anna-Elina Lehesjoki
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Aarno Palotie
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Mikko Muona
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Ryosuke Ishimura
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Anni Laari
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Yoshinobu Ichimura
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Tarja Linnankivi
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Riikka Keski-Filppula
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Riitta Herva
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Heikki Rantala
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Anders Paetau
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Miki Obata
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Takefumi Uemura
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Thomas Karhu
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Norihisa Bizen
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Hirohide Takebayashi
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Michael J Parker
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Nadia Akawi
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Jeremy McRae
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Matthew E Hurles
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DDD Study
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Outi Kuismin
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Mitja I Kurki
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Anna-Kaisa Anttonen
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Keiji Tanaka
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Satoshi Waguri
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17 August 2016
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683-694
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Identifiers
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