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Article

Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.

Annals of human genetics - 1 Sept 2023

Yin Lan, Zhu Yingchuan, Jiang Wenhao, Song Yue, Lu Yilu, Tao Dachang, Liu Yunqiang, Ma Yongxin

Abstract excerpt

BACKGROUND: The protein encoded by the cartilage oligomeric matrix protein (COMP) gene is a noncollagenous extracellular matrix (ECM) protein that is important for chondrocyte formation and growth. Variations in the COMP gene cause pseudoachondroplasia (PSACH), which is mainly characterized by short-limbed dwarfing in the clinic. AIMS: To characterize the function of a rare pathogenic variant in the COMP gene...

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Identifiers

PMID: 37461830
DOI: 10.1111/ahg.12521

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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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