TY  - GEN

T1  - High-throughput
                  <i>PRPF31</i>
                  variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines

T2  - openRxiv

UR  - https://doi.org/10.1101/2020.04.06.20055020

PY  - 2020/04/11

AU  - Nazlamova L

AU  - Cheung M-K

AU  - Legebeke J

AU  - Lord J

AU  - Pengelly RJ

AU  - Tapper W

AU  - Wheway G

ED  - 

DO  - DOI: 10.1101/2020.04.06.20055020

Y2  - 2026/01/25

ER  -