Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 7(43), p. 963-970, 2022
DOI: 10.1002/humu.24378
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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
Journal article published in 2022 by
Htoo A. Wai 
,
Matthew Constable,
Cosima Drewes,
Ian C. Davies,
Eliska Svobodova,
Esther Dempsey,
Anand Saggar,
Tessa Homfray,
Sahar Mansour,
Sofia Douzgou,
Kate Barr,
Catherine Mercer,
David Hunt,
Andrew G. L. Douglas,
Diana Baralle
,
Matthew Constable,
Cosima Drewes,
Ian C. Davies,
Eliska Svobodova,
Esther Dempsey,
Anand Saggar,
Tessa Homfray,
Sahar Mansour,
Sofia Douzgou,
Kate Barr,
Catherine Mercer,
David Hunt,
Andrew G. L. Douglas,
Diana Baralle
This paper is made freely available by the publisher.
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