Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

Medicine and Dentistry

• Disease 100%
• Syndrome 80%
• Phenotype 40%
• Dystonia 40%
• Patient 20%
• Lesion 20%
• Vacuolization 20%
• Family 20%
• Childhood 20%
• Fibroblast 20%
• Genotype 20%
• Brain 20%
• Involuntary Movement 20%
• Nerve Cell Degeneration 20%
• Caudate Nucleus 20%
• Putamen 20%

INIS

• reviews 100%
• phenotype 100%
• patients 50%
• brain 50%
• nuclei 50%
• losses 50%
• fibroblasts 50%
• genotype 50%

Biochemistry, Genetics and Molecular Biology

• Nerve Cell Degeneration 20%
• Involuntary Movement 20%