HS1BP3, HCLS1 binding protein 3, 64342

N. diseases: 7; N. variants: 3
Disease: Blepharospasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.010 GeneticVariation disease BEFREE Deleterious variants in HS1BP3 (NM_022460.3: c.94C>A, p.Gly32Cys) and GNA14 (NM_004297.3: c.989_990del, p.Thr330ArgfsTer67) were identified in a father and son with segmental cranio-cervical dystonia first manifest as BSP. 29770609 2018