ABCC7 p.Glu56Leu
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PMID: 23924900
[PubMed]
Ren HY et al: "VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1."
No.
Sentence
Comment
61
The severe folding (Figure 4, A-B) and functional (Figure 4E) defects exhibited by E56L, P67L and L206W were completely corrected by 5 bc;M VX-809.
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ABCC7 p.Glu56Leu 23924900:61:83
status: NEW