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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.R518S

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CFTR

NM_000492.4:p.R518S

hg38:chr7:117559625 A>C

Associated Papers

The role of the STAS domain in the function and biogenesis of a sulfate transporter as probed by random mutagenesis.

Shibagaki N et al.

The Journal of Biological Chemistry, 2006

16754669 (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."