Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S18Splc
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CFTR

NM_000492.4:p.S18Splc

Associated Papers

Challenging the diagnosis of cystic fibrosis in a patient carrying the 186-8T/C allelic variant in the CF transmembrane conductance regulator gene.

Caldrer S et al.

Bmc Pulmonary Medicine, 2014

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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."