Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E279delFs
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CFTR

NM_000492.4:p.E279delFs

Associated Papers

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ et al.

The Journal of Biological Chemistry, 2002

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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."