@article{article, title = {{Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance}}, publisher = {{Springer Nature}}, url = {{https://eprints.whiterose.ac.uk/164180/ }}, year = {{2020}}, month = {{6}}, author = {{Wai HA and Lord J and Lyon M and Gunning A and Kelly H and Cibin P and Seaby EG and Spiers-Fitzgerald K and Lye J and Ellard S and Thomas NS et al}}, doi = {{10.1038/s41436-020-0766-9}}, volume = {{22}}, journal = {{Genetics in Medicine}}, issue = {{6}}, pages = {{1005-1014}}, note = {{Accessed on 2025/01/13}}}