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A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

By Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx and Anne De Paepe
Topics: Research Article
Publisher: Public Library of Science
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Provided by: PubMed Central

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