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A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.

Am J Hum Genet 82:1122-9 (2008)
DOI:10.1016/j.ajhg.2008.03.013

Hadar N, Porgador O, Cohen I, Levi H, Dolgin V, Yogev Y, Sued-Hendrickson S, Shelef I, Didkovsky E, Eskin-Schwartz M, Birk OS

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.

Eur J Hum Genet 32:550-557 (2024)
DOI:10.1038/s41431-024-01559-1