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
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
Published in Human mutation (01.07.2022)
Published in Human mutation (01.07.2022)
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Journal Article
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing
Hocking, Lynne J, Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J, O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J, Miedzybrodzka, Zosia
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
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Journal Article