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PMC 4666545

Importantly, the R7W mutation in humans is known to cause dysostosis multiplex, also known as Mucolipidosis type V 5,8

Abu-Sbeih, H, Szafron, D, Elkafrawy, AA, Garcia-Rodriguez, V, Ma, W, Xu, A, Khurana, S, Numan, L, Chen, E, Goldstein, R, Tsen, A, Peng, Y, Blum Murphy, M, Kopetz, S , Ikoma, N, Shatila, M, Qiao, W, Raju, GS, Ross, WA, Ge, PS, Coronel, E, Wang, Y
