Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D513E
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CFTR

NM_000492.4:p.D513E

Associated Papers

A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation.

Chen X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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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."