Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease

Keyphrases

• Parkinson's Disease 100%
• Early Parkinson's Disease 100%
• VPS13C 100%
• Diagnostic Exome Sequencing 100%
• Rare Cause 100%
• Autosomal Recessive Parkinsonism 100%
• Diagnostic Performance 40%
• Risk Factors 40%
• Exome Sequencing 20%
• Compound Heterozygous mutation 20%
• Pathogenic Variants 20%
• Idiopathic Parkinson's Disease 20%
• Whole Exome Sequencing 20%
• Early Onset 20%
• Disease Genes 20%
• Splice Site 20%
• Disease Risk 20%
• Gene Panel 20%
• Family History 20%
• Mendelian Genes 20%
• Genetic Testing 20%
• Risk Impact 20%
• Candidate Disease Genes 20%
• Disease Symptoms 20%
• Atypical Parkinsonism 20%
• Causal Role 20%
• Protein-truncating Variants 20%
• Autosomal Recessive Early-onset Parkinson's Disease 20%
• Further Analysis 20%
• Heterogeneous Disorder 20%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Autosomal Recessive Inheritance 100%
• Genetic Screening 25%
• Gene Linkage 25%