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Article

A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.

Human genomics - 25 Jul 2025

Alblooshi Hiba, Mustafa Noor, Khalam Azeem Abdul, Bharathan Anjali, Mohammed Ekhlass, Baydoun Ibrahim, Tabouni Mohammed, Allam Mushal, Almansoori Meera, Fatima Tabeer, Aljaberi Najla

Abstract excerpt

BACKGROUND: Juvenile Idiopathic Arthritis (JIA) represents the most prevalent chronic rheumatic disease in childhood. Its etiology is multifactorial, with growing evidence pointing to a significant genetic contribution to disease susceptibility. Recent genomic studies have identified a range of inherited variants associated with distinct arthritis phenotypes, among which LACC1-related arthritis has emerged as a...

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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: 40713900
DOI: 10.1186/s40246-025-00800-2
PMCID: PMC12297826

Genes

LACC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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