Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P448_E449insFs
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KCNQ1

NM_000218.3:p.P448_E449insFs

Associated Papers

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV et al.

The Journal of Investigative Dermatology, 1999

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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."