PLS3, plastin 3, 5358

N. diseases: 47; N. variants: 5
Disease: Lobstein Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.010 GeneticVariation disease BEFREE Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. 24088043 2013