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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.R899K

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CFTR

NM_000492.4:p.R899K

hg38:chr7:117603570 G>A

Associated Papers

The cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.

Broadbent SD et al.

Pflugers Archiv : European Journal of Physiology, 2015

25277268 (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."