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Practical challenges for functional validation of STAT1 gain of function genetic variants

Albuquerque, Adriana S; Maimaris, Jesmeen; McKenna, Alexander J; Lambourne, Jonathan; Moreira, Fernando; Workman, Sarita; Megy, Karyn; ... Burns, Siobhan O; + view all (2023) Practical challenges for functional validation of STAT1 gain of function genetic variants. Clinical & Experimental Immunology , 212 (2) pp. 166-169. 10.1093/cei/uxad008. Green open access

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Type: Article
Title: Practical challenges for functional validation of STAT1 gain of function genetic variants
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/cei/uxad008
Publisher version: https://doi.org/10.1093/cei/uxad008
Language: English
Additional information: © The Author(s) 2023. Published by Oxford University Press on behalf of the British Society for Immunology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: STAT1, chronic mucocutaneous candidiasis, flow cytometry, gain-of-function, primary immunodeficiency, variants of unknown significance
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Infection and Immunity
URI: https://discovery.ucl.ac.uk/id/eprint/10164685
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