TUBB2B, tubulin beta 2B class IIb, 347733

N. diseases: 82; N. variants: 14
Disease: Congenital anomaly of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 GeneticVariation group BEFREE This study expands the spectrum of brain malformations associated with mutations in the β-tubulin gene TUBB2B, supporting its critical role in migration/organization and axon guidance processes. 22591407 2012