Condition: Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related


rs121918555 in TUBB1 gene and Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related PMID 18849486 2009 Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.