@misc{misc, title  = {{High-throughput
                  <i>PRPF31</i>
                  variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines}},

 url = {{https://doi.org/10.1101/2020.04.06.20055020 }},

 year = {{2020}},

 month = {{4}},

 author = {{Nazlamova L and Cheung M-K and Legebeke J and Lord J and Pengelly RJ and Tapper W and Wheway G}},

 doi = {{10.1101/2020.04.06.20055020}},

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