@inproceedings{inproceedings, title  = {{A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project}},

 url = {{}},

 year = {{2023}},

 month = {{5}},

 author = {{Blakes A and Wai H and Davies I and Moledina H and Ruiz A and Thomas T and Bunyan D and Thomas NS and Burren C and Greenhalgh L and Lees M et al}},

 volume = {{31}},

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

 pages = {{58-58}},

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