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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.N1419H

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CFTR

NM_000492.4:p.N1419H

hg38:chr7:117666920 A>C

Associated Papers

Trikafta restores thermodynamic coupling between two nucleotide binding domains for potentiating CFTR activity.

Wang G

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026

41496342 (PubMed )

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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."