Associated Papers
Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.
Parisi SR et al.
European Journal of Cell Biology, 2026
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Salian S et al.
American Journal of Medical Genetics. Part A, 2017
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