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Article

Novel genetic variants of inborn errors of immunity.

PloS one - 1 Jan 2021

Almarzooqi Farida, Souid Abdul-Kader, Vijayan Ranjit, Al-Hammadi Suleiman

Abstract excerpt

OBJECTIVES: Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary objective of this study was to evaluate the pathogenicity of novel variants of IEI found among Emiratis. METHODS: This retrospective data collection study reports...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33481921
DOI: 10.1371/journal.pone.0245888
PMCID: PMC7822508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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