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De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
Document Type
Article
Author
Ragamin, A.; Van Slegtenhorst, M.; Wilke, M.; Mancini, G.M.S.; Gomes, C.C.; Bindels-De Heus, K.; Sandoval, R.; Bassenden, A.V.; Berghuis, A.; Dib, L.; Kok, F.; Alves, J.; Mathijssen, I.; Medici-Van Den Herik, E.; Eveleigh, R.; Gayden, T.; Jabado, N.; Pullens, B.; Gomez, R.S.
Source
In: Journal of Medical Genetics. (Journal of Medical Genetics, 1 March 2022, 59(3):305-312)
Subject
Language
English
ISSN
14686244
00222593

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