Title |
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function |
|---|---|
Involved |
Matthis Synofzik (Verfasser)
Katherine L. Helbig (Sonstige) Florian Harmuth (Sonstige) Tine Deconinck (Sonstige)
Pranoot Tanpaiboon (Sonstige)
Bo Sun (Sonstige) Wenting Guo (Sonstige) Ruiwu Wang (Sonstige) Erika Palmaer (Sonstige) Sha Tang (Sonstige) G. Bradley Schaefer (Sonstige) Janina Gburek-Augustat (Sonstige) Stephan Züchner (Sonstige) Ingeborg Krägeloh-Mann (Sonstige) Jonathan Baets (Sonstige) Peter de Jonghe (Sonstige) Peter Bauer (Sonstige) S. R. Wayne Chen (Sonstige) Ludger Schöls (Sonstige) Rebecca Schüle (Sonstige) SpringerLink (Online service) (Sonstige) |
Published in |
European journal of human genetics : the official journal of the European Society of Human Genetics 20.6.2018, Seite 1-12 |
Published |
2018 |
Language |
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Country |
|
Topic |
|
Subject |
Biomedicine.
Biomedicine, general. Human Genetics. Bioinformatics.
Gene Expression.
Cytogenetics. |
DDC notation |
|
Persistent identifier |
urn:nbn:de:101:1-2018083020390270296212 (URN) |
Record ID |
1165849569 |
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