Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E92V
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CFTR

NM_000492.4:p.E92V

Associated Papers

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Ren HY et al.

Molecular Biology of the Cell, 2013

23924900 (PubMed )
Supplement: supp_E13-05-0240v1_CombinedSupMats.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."