@inproceedings{inproceedings, title  = {{RNA-seq identifies diagnostically relevant splicing abnormalities in patients without candidate variants}},

 url = {{}},

 year = {{2024}},

 month = {{1}},

 author = {{Douglas A and Oquendo CJ and Lord J and Wai H and Rich W and Bunyan D and Baralle D}},

 volume = {{32}},

 journal = {{EUROPEAN JOURNAL OF HUMAN GENETICS}},

 pages = {{616-617}},

 note = {{Accessed on 2026/01/25}}}