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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.K522delins

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CFTR

NM_000492.4:p.K522delins

hg38:chr7:117559636 A>AATAGAGGTC

Associated Papers

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.

Picard V et al.

Human Genetics, 2010

19760264 (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."