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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.Y625fs

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CFTR

NM_000492.4:p.Y625fs

hg38:chr7:117592040 TAT>N

Associated Papers

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

De Wachter E et al.

Orphanet Journal of Rare Diseases, 2017

28830496 (PubMed )

Supplement: 13023_2017_694_MOESM1_ESM.docx

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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."