Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1480V
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CFTR

NM_000492.4:p.L1480V

Associated Papers

Improved maturation of CFTR by an ER export signal.

Wendeler MW et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007

Role of CFTR's PDZ1-binding domain, NBF1 and Cl(-) conductance in inhibition of epithelial Na(+) channels in Xenopus oocytes.

Boucherot A et al.

Biochimica Et Biophysica Acta, 2001

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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."