@inproceedings{inproceedings, title  = {{Assessment of variants of unknown significance using RNA sequencing to improve diagnostic yield}},

 url = {{}},

 year = {{2024}},

 month = {{1}},

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

 volume = {{32}},

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

 pages = {{634-634}},

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