Article

Molecular dynamics and theratyping in airway and gut organoids reveal R352Q-CFTR conductance defect

2021-08-11

Abstract excerpt

A significant challenge to making targeted CFTR modulator therapies accessible to all individuals with cystic fibrosis (CF) are many mutations in the CFTR gene that can cause CF, most of which remain uncharacterized. Here, we characterized the structural and functional defects of the rare CFTR mutation R352Q – with potential role contributing to intrapore chloride ion permeation – in patient-derived cell models o...

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Literature Corpus work: a9afba98-2582-57b3-b31a-239eb7a7283a
DOI: 10.1101/2021.08.11.456003

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