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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ1

Variant:p.E450delFs

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KCNQ1

NM_000218.3:p.E450delFs

hg38:chr11:2588809 GA>G

Associated Papers

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Sieliwonczyk E et al.

Orphanet Journal of Rare Diseases, 2023

36721196 (PubMed )

Supplement: 13023_2023_2618_MOESM2_ESM.docx

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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."