Pleased to share our new preprint “Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks” www.researchsquare.com/article/rs-9...
Exeter Rare Disease
@rdexeter.bsky.social
116 followers 158 following 9 posts
Prof Emma Baple and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases wohproject.com
