Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1258F
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CFTR

NM_000492.4:p.L1258F

Associated Papers

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling.

Hohwieler M et al.

Gut, 2017

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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."