Publications:

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Human Molecular Genetics

Burger, Joyce J; Bogunovic, Natalija N; de Wagenaar, Nathalie P NP; Liu, Hui H; van Vliet, Nicole N; IJpma, Arne A; Maugeri, Alessandra A; Micha, Dimitra D; Verhagen, Hence J M HJM; Ten Hagen, Timo L M TLM; Majoor-Krakauer, Danielle D; van der Pluijm, Ingrid I; Essers, Jeroen J; Yeung, Kak K KK

Publication Date: 2021-11-16

Variant appearance in text: FBN1: 2369insC

PubMed Link: 34244757

Variant Present in the following documents:

• Main text
• ddab190.pdf

View BVdb publication page