Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators

Railean, V; Rodrigues, CS; Ramalho, SS; Silva, IAL; Bartosch, J; Farinha, CM; Pankonien, I; Amaral, MD

Pankonien, I; Amaral, MD (通讯作者)，Univ Lisbon, BioISI Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal.

FRONTIERS IN MOLECULAR BIOSCIENCES, 2023; 10 ():

Abstract

Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecula......

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