Spinocerebellar ataxias 36 is the neurodegenerative disease caused by the GGCCTG Hexanucleotide repeat expansions in NOP56,which is too long to sequence using short-read sequencing. Single molecule re
Gene ontology term enrichments for RNA-Seq data from differentiated TSC2 deletion cell lines and microarray data of patient SEGAs (related to Fig. 2f). (XLSX 27.7 kb)
Understanding, expectation, experience with genomic testing in baseline (pre-test) and follow up (post-test) surveys. This data is self-reported by participants or carers of participants.