Disease: Parkinsonian Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.010 GeneticVariation BEFREE Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism. 18286320 2008