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PDFDiagnostics
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project
- Correspondence to Professor Claire L Shovlin; c.shovlin{at}imperial.ac.uk
Citation
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project
Publication history
- Received February 3, 2023
- Accepted March 23, 2023
- First published August 16, 2023.
Online issue publication
January 19, 2024
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© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.