Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia - Morales‐Rosado, Joel A.; Macke, Erica L.; Cousin, Margot A.; Oliver, Gavin R.; Dhamija, Radhika; Klee, Eric W. (Molecular genetics & genomic medicine, 2020)
Keywords: Adult; Amino acid substitution; Amino acids; Ataxia; Atrophy; Best practice; bioinformatics; Cerebellar Ataxia - diagnostic imaging; Cerebellar Ataxia - genetics; Cerebellar Ataxia - pathology; Disruption; DNA-directed RNA polymerase; Dysarthria; Evaluation; Family medical history; Female; Gait; Gene expression; Gene sequencing; Genes; Genetic Testing - methods; Genetic Testing - standards; Genotype & phenotype; Heterozygosity; Humans; Laboratories; Magnetic resonance imaging; missense; Mutation, Missense; Neurodegenerative diseases; Original; Phenotype; Phenotypes; RNA polymerase; RNA Polymerase III - genetics; RNA Polymerase III - metabolism; RNA Splicing; Spasticity; Spinal cord; Splice junctions; Splicing; Transcription; variant interpretation; missense; splicing; bioinformatics; variant interpretation