Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R487_I488insFs
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CFTR

NM_000492.4:p.R487_I488insFs

Associated Papers

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Morral N et al.

American Journal of Human Genetics, 1994

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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."