TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
Alfaiz A.A., Micale L., Mandriani B., Augello B., Pellico M.T., Chrast J., Xenarios I., Zelante L., Merla G., Reymond A., 2014. Human Mutation, 35 (4) pp. 447-451.
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