Utility of Genome Sequencing and Group-Enrichment to Support Splice Variant Interpretation in Marfan Syndrome
Susan Walker,David J Bunyan,Huw B Thomas,Yesim Kesim,Christopher J Kershaw,John Holloway,Htoo Wai, Michael Day, Cassandra L Smith,Gareth Hawkes,Andrew R Wood,Michael N Weedon, Ed Blair,Stephanie L Curtis, Catherine Fielden,Julie Evans,Rebecca Whittington,Sarah F Smithson,Helen Cox,Paul Clift,Meriel McEntagart,Matina Prapa, Suzanne Alsters, Deborah Morris-Rosendahl,John Dean,Patrick J Morrison,Abhijit Dixit,Ajoy Sarkar,Katrina Prescott, Leila Amel Riazat Kesh, Riya Tharakan,Claire Turner,Sian Ellard,Charles Shaw-Smith,James Fasham,Virginia Clowes,Simon Holden, Suresh Somarathi,Catherine Mercer,Ian Berry,Raymond T O'Keefe,Siddharth Banka,Diana Baralle,N Simon Thomas,Emma L Baple,Jenny C Taylor,Alistair T Pagnamenta Genetics in medicine official journal of the American College of Medical Genetics（2025）
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper