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Article

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.

Clinical genetics - 1 Mar 2020

Zhang Boyan, Zhang Yue, Wu Naichao, Li Jianing, Liu He, Wang Jincheng

Abstract excerpt

The COL2A1 gene encodes the alpha-1 chain of type II procollagen. Type II collagen, comprised of three identical alpha-1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II collagenopathies, with a wide spectrum of clinical presentations. To date, at least 460 distinct COL2A1 mutations, identified in 663 independent probands, and 21 definite...

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PMID: 31758797
DOI: 10.1111/cge.13680

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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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