rs267607165, TUBB3

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE This study aimed to report the clinical, genetic, and molecular features of a familial presentation of the TUBB3 E410K syndrome. 25559402 2015