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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder
Document Type
Article
Author
Paul, F.; Reversade, B.; Ng, C.; Mohamad Sahari, U.B.; Wong, P.-M.; Nabavizadeh, N.; Nafissi, S.; Nilipoor, Y.; Tavasoli, A.R.; Bonnard, C.; Altunoglu, U.; Estiar, M.A.; Gan-Or, Z.; Rouleau, G.A.; Massie, R.; Majoie, C.B.; Lee, H.; Nelson, S.F.; Van Veldhoven, P.P.; Hennekam, R.C.; Kariminejad, A.
Source
In: Human Molecular Genetics. (Human Molecular Genetics, 1 November 2022, 31(21):3729-3740)
Subject
Language
English
ISSN
14602083
09646906

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