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.