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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.F494L

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CFTR

NM_000492.4:p.F494L

hg38:chr7:117559553 T>G

Associated Papers

Function, pharmacological correction and maturation of new Indian CFTR gene mutations.

Sharma H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015

25042876 (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."