@misc{misc, title  = {{Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders}},

 url = {{https://doi.org/10.22541/au.160157595.59675486 }},

 year = {{2020}},

 month = {{10}},

 author = {{Rowlands C and Thomas H and Lord J and Wai H and Arno G and Beaman G and Sergouniotis P and Gomes-Silva B and Campbell C and Gossan N and Hardcastle C et al}},

 doi = {{10.22541/au.160157595.59675486}},

 note = {{Accessed on 2026/06/03}}}