Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R487_Q493delFs
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CFTR

NM_000492.4:p.R487_Q493delFs

Associated Papers

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

Blazquez A et al.

Neuromuscular Disorders : Nmd, 2005

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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."