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Colombi, M., Dordoni, C., Venturini, M., et al. (2017) Delineation of Ehlers-Danlos Syndrome Phenotype Due to the c.934C > T, p. (Arg312Cys) Mutation in COL1A1: Report on a Three-Generation Family without Cardiovascular Events, and Literature Review. American Journal of Medical Genetics Part A, 173, 524-530.
https://doi.org/10.1002/ajmg.a.38035

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