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Article

Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.

American journal of human genetics - 10 Jan 2013

Mueller Michael, Barros Paula, Witherden Abigail S, Roberts Amy L, Zhang Zhou, Schaschl Helmut, Yu Chack-Yung, Hurles Matthew E, Schaffner Catherine, Floto R Andres, Game Laurence, Steinberg Karyn Meltz, Wilson Richard K, Graves Tina A, Eichler Evan E, Cook H Terence, Vyse Timothy J, Aitman Timothy J

Abstract excerpt

Reduced FCGR3B copy number is associated with increased risk of systemic lupus erythematosus (SLE). The five FCGR2/FCGR3 genes are arranged across two highly paralogous genomic segments on chromosome 1q23. Previous studies have suggested mechanisms for structural rearrangements at the FCGR2/FCGR3 locus and have proposed mechanisms whereby altered FCGR3B copy number predisposes to autoimmunity, but the high degree...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23261299
DOI: 10.1016/j.ajhg.2012.11.013
PMCID: PMC3542466

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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