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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.V456_A457insFs

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CFTR

NM_000492.4:p.V456_A457insFs

hg38:chr7:117548799 T>TC

Associated Papers

Gene therapy of epidermolysis bullosa.

Bauer JW et al.

Expert Opinion on Biological Therapy, 2004

15335311 (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."