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

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Bibliographic Details
Published inClinical and experimental immunology Vol. 212; no. 2; pp. 166 - 169
Main Authors Albuquerque, Adriana S, Maimaris, Jesmeen, McKenna, Alexander J, Lambourne, Jonathan, Moreira, Fernando, Workman, Sarita, Megy, Karyn, Simeoni, Ilenia, Lango Allen, Hana, Morris, Emma C, Burns, Siobhan O
Format Journal Article
LanguageEnglish
Published US Oxford University Press 25.04.2023
Subjects
Candidiasis, Chronic Mucocutaneous - genetics
Gain of Function Mutation
Humans
Immunodeficiency
Mutation
STAT1 Transcription Factor - genetics
STAT1 Transcription Factor - metabolism
primary immunodeficiency
flow cytometry
variants of unknown significance
STAT1
chronic mucocutaneous candidiasis
gain of function
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Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0009-9104
1365-2249
DOI:10.1093/cei/uxad008