Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.
Sadeghipour P, Valuian M, Ghasemi S, Rafiee F, Pourirahim M, Mahmoodian M, Maleki M, Kalayinia S. Lab Med. 2024 Jul 3; 55(4):447-453.