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Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2 -associated immune dysregulation with cold urticaria (CU-PLAID)

medRxiv(2024)10.1101/2024.03.16.24304180Source: DataRank Database

Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2 -associated immune dysregulation with cold urticaria (CU-PLAID) is a research paper published in medRxiv (2024). On theSindex it has a DataRank of 0.

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Enrichment:Funding (2 grants)OA: greenTopics (12)IDs (PubMed, OpenAlex)

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Authors (6)

Alexis C. Bailey,Kathleen Baysac,Andrew J. Oler ORCID,Joshua D. Milner ORCID,Michael J. Ombrello ORCID

Live enrichment

PubMed:38562814 OpenAlex:https://openalex.org/W4392938905

National Institutes of Health

Grant: 1ZIAAR041198-02

Genetics and pathophysiology of systemic juvenile idiopathic arthritis and other complex autoinflammatory diseases

National Institutes of Health

Grant: 1ZIAAI001098-04

Pathogenesis and Treatment of Atopic Dermatitis

greenLicense: http://creativecommons.org/publicdomain/zero/1.0/This article is a US Government work. It is not subject to copyright under 17 USC 105 and is also made available for use under a CC0 license (http://creativecommons.org/publicdomain/zero/1.0/) .

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2024/03/19/2024.03.16.24304180.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2024.03.16.24304180

repositoryhttp://dx.doi.org/10.1101/2024.03.16.24304180

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38562814

Fields of Study

Urticaria and Related ConditionsMast cells and histamineImmune Cell Function and Interaction0303 health sciences03 medical and health sciences

Keywords

BiologyExonGeneticsMutationspliceGeneArticle