Genomic observations of a rare/pathogenic SMAD3 variant in Loeys–Dietz syndrome 3 confirmed by protein informatics and structural investigations

John E. Richter, Ayesha Samreen, Charitha Vadlamudi, Haytham Helmi, Ahmed N. Mohammad, Klaas Wierenga, Stephanie Hines, Paldeep S. Atwal, Thomas R. Caulfield

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