Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Ragoussis, Vassilis, Pagnamenta, Alistair T., Haines, Rebecca L., Giacopuzzi, Edoardo, McClatchey, Martin A., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Genomics England Research Consortium and Taylor, Jenny C. 2022. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics 59 (4) , pp. 366-369. 10.1136/jmedgenet-2020-107528

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Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Additional Information:	This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license
Publisher:	BMJ Publishing Group
ISSN:	0022-2593
Date of First Compliant Deposit:	18 February 2021
Date of Acceptance:	10 January 2021
Last Modified:	19 Nov 2024 01:30
URI:	https://orca.cardiff.ac.uk/id/eprint/138663

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