SPX, spexin hormone, 80763

N. diseases: 33; N. variants: 0
Disease: Primary familial brain calcification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.010 GeneticVariation disease BEFREE Our results establish for the first time the clinical and molecular characteristics of XPR1 variants located outside the SPX domain and assert a direct link between these variants, deficient phosphate export, and PFBC. 31043717 2019