Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

JM Ellingford, HB Thomas, C Rowlands, G Arno, G Beaman, B Gomes-Silva, C Campbell, N Gossan, C Hardcastle, K Webb, C O'Callaghan, RA Hirst, Genomics England Research Consortium

Research output: Contribution to journalArticle

Original languageEnglish
JournalbioRxiv
DOIs
Publication statusPublished - 26 Sep 2019

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