1. Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. Issue 7 (27th April 2022) Authors: Wai, Htoo A.; Constable, Matthew; Drewes, Cosima; Davies, Ian C.; Svobodova, Eliska; Dempsey, Esther; Saggar, Anand; Homfray, Tessa; Mansour, Sahar; Douzgou, Sofia; Barr, Kate; Mercer, Catherine; Hunt, David; Douglas, Andrew G. L.; Baralle, Diana Journal: Human mutation Issue: Volume 43:Issue 7(2022) Page Start: 963 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗