Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism. [electronic resource]
Producer: 20201026Description: 13576 p. digitalISSN:- 2045-2322
- Adult
- Aged
- Atrophy
- Brain Stem -- diagnostic imaging
- Cell Nucleus -- metabolism
- Cerebellum -- diagnostic imaging
- Codon, Terminator
- Female
- Genetic Predisposition to Disease
- HEK293 Cells
- High-Throughput Nucleotide Sequencing
- Humans
- Magnetic Resonance Imaging
- Middle Aged
- Parkinsonian Disorders -- diagnostic imaging
- Pedigree
- Poly(A)-Binding Proteins -- genetics
- Whole Genome Sequencing
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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