@article{39ca6436ed0a4889ac6e2efcfe9946ab,
title = "Practical challenges for functional validation of STAT1 gain of function genetic variants",
keywords = "STAT1, chronic mucocutaneous candidiasis, flow cytometry, gain of function, primary immunodeficiency, variants of unknown significance",
author = "{NIHR BioResource-Rare Disease Consortium} and Albuquerque, {Adriana S.} and Jesmeen Maimaris and McKenna, {Alexander J.} and Jonathan Lambourne and Fernando Moreira and Sarita Workman and Karyn Megy and Ilenia Simeoni and Allen, {Hana Lango} and Morris, {Emma C.} and Burns, {Siobhan O.} and Zoe Adhya and Hana Alachkar and Ariharan Anantharachagan and Richard Antrobus and Gururaj Arumugakani and Chiara Bacchelli and Helen Baxendale and Claire Bethune and Shahnaz Bibi and Barbara Boardman and Claire Booth and Michael Browning and Mary Brownlie and Siobhan Burns and Anita Chandra and Hayley Clifford and Nichola Cooper and Sophie Davies and John Dempster and Lisa Devlin and Rainer Doffinger and Elizabeth Drewe and David Edgar and William Egner and Tariq El-Shanawany and Bobby Gaspar and Rohit Ghurye and Kimberley Gilmour and Sarah Goddard and Pavel Gordins and Sofia Grigoriadou and Scott Hackett and Rosie Hague and Lorraine Harper and Grant Hayman and Archana Herwadkar and Stephen Hughes and Daniel Greene and Ernest Turro",
year = "2023",
month = may,
doi = "10.1093/cei/uxad008",
language = "English",
volume = "212",
pages = "166--169",
journal = "Clinical and Experimental Immunology",
issn = "0009-9104",
publisher = "Oxford University Press",
number = "2",
}