Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1472K
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CFTR

NM_000492.4:p.E1472K

Associated Papers

Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids.

Lefferts JW et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023

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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."