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Article

Challenges in functional validation and mechanistic interpretation of a novel LACC1 variant in familial juvenile arthritis.

Human genomics - 25 Feb 2026

Yu Lin, Yang DuJiang, Ye Zhijun, Wang GuoYou

Abstract excerpt

In their recent publication, Alblooshi et al. report the identification and preliminary functional analysis of a novel LACC1 variant, p.Asp220Asn, associated with familial juvenile idiopathic arthritis. While their study provides a valuable genetic association, this letter offers a critical appraisal to contextualize the findings and propose essential future directions. We contend that the functional...

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Identifiers

PMID: 41736164
DOI: 10.1186/s40246-025-00865-z
PMCID: PMC12934097

Genes

LACC1

Variants

Provenance

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

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