The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans

Minna Ampuja, Sabina Ericsson, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg, Amanda Ramste, Diego Balboa, Tiina Ojala, Jessica X. Chong, Michael J. Bamshad, James R. Priest, Markku Varjosalo, Riikka Kivelä, Emmi Helle

Human Genetics and Genomics Advances (2025)

Published on February 17, 2026

DOI: https://doi.org/10.1016/j.xhgg.2025.100446

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O. Parilova et al. • 2026 • Nucleic Acids Research
Abstract RNA polymerase I (Pol I) synthesizes precursor ribosomal RNA, a key step in ribosome biogenesis. Elevated Pol I activity... Read more
M. Gluud et al. • 2026 • Allergy
ABSTRACT Background Skin barrier dysfunction is central to inflammation and susceptibility to infection in atopic dermatitis (AD). Cutaneous T‐cell lymphoma... Read more
G. Follain et al. • 2026 • The EMBO Journal
Abstract The rapid, transient, and unpredictable nature of interactions between circulating cells and the endothelium challenges the investigation of these... Read more