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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.A1217E

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CFTR

NM_000492.4:p.A1217E

hg38:chr7:117627703 C>A

Associated Papers

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.

Zybert K et al.

Pediatric Pulmonology, 2020

32442342 (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."