rs760292725, SCO1

N. diseases: 1
Disease: Encephalopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
0.010 GeneticVariation BEFREE Here, we identified novel compound heterozygous mutations in SCO1 (p.M294V, p.Val93*) in one such patient with fatal encephalopathy. 23878101 2013