BiophysicsbioRxiv
Interpreting the molecular mechanisms of disease variants in human membrane proteins
J. K. Tiemann, H. Zschach, K. Lindorff-Larsen, A. Stein
This paper investigates missense variants in human membrane proteins, finding that loss of stability is a common mechanism for pathogenicity in over half of the studied variants.
DOI 10.1016/j.bpj.2022.12.031