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Van Bergen, N.J.* ; Guo, Y.* ; Rankin, J.* ; Paczia, N.* ; Becker-Kettern, J.* ; Kremer, L.S. ; Pyle, A.* ; Conrotte, J.* ; Ellaway, C.J.* ; Procopis, P.* ; Prelog, K.* ; Homfray, T.* ; Baptista, J.* ; Baple, E.* ; Wakeling, M.* ; Massey, S.* ; Kay, D.P.* ; Shukla, A.* ; Girisha, K.M.* ; Lewis, L.E.S.* ; Santra, S.D.* ; Power, R.* ; Daubeney, P.* ; Montoya, J.* ; Ruiz-Pesini, E.* ; Kovács-Nagy, R.* ; Pritsch, M.* ; Ahting, U.* ; Thorburn, D.R.* ; Prokisch, H. ; Taylor, R.* ; Christodoulou, J.* ; Linster, C.* ; Ellard, S.* ; Hakonarson, H.*

NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses.

Eur. J. Hum. Genet. 27, 751-752 (2019)
Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Meeting abstract
Language english
Publication Year 2019
HGF-reported in Year 2019
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Journal European Journal of Human Genetics
Quellenangaben Volume: 27, Issue: , Pages: 751-752 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place Macmillan Building, 4 Crinan St, London N1 9xw, England
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
WOS ID WOS:000489313106009
Erfassungsdatum 2019-10-28
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