Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G970Splc
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CFTR

NM_000492.4:p.G970Splc

Associated Papers

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

McElvaney OJ et al.

Thorax, 2018

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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."