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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Document Type

Article

Author

Josifova, D.J.; Monroe, G.R.; Tessadori, F.; van der Zwaag, B.; Harakalova, M.; Duran, K.J.; Savelberg, S.M.C.; Nijman, I.J.; Knoers, N.V.; van Haaften, G.; van Haelst, M.M.; Bakkers, J.; de Graaff, E.; Hoogenraad, C.C.; Mehta, S.G.; Firth, H.V.; Jungbluth, H.; Beales, P.L.; The DDD Study

Source

In: Human Molecular Genetics. (Human Molecular Genetics, 1 June 2016, 25(11):2158-2167)

Subject

Language

English

ISSN

14602083
09646906

Online Access

Full Text (Oxford University Press) Full Text (OUP Near Archive) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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