rs587777074, TUBB4A

N. diseases: 7
Disease: Central neuroblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.010 GeneticVariation BEFREE To elucidate the pathogenic mechanisms conferred by TUBB4A mutations leading to the different phenotypes, we functionally characterized three pathogenic TUBB4A variants (c.4C>G,p.R2G; c.745G>A,p.D249N; c.811G>A, p.A271T) as representatives of the mutational and disease spectrum) in human neuroblastoma cells and human induced pluripotent stem cell (iPSC)-derived neurons. 30079973 2018