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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCND2

Variant:p.R573delFs

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KCND2

NM_012281.3:p.R573delFs

hg38:chr7:120747683 GA>G

Associated Papers

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Stenton SL et al.

Human Genomics, 2024

38685113 (PubMed )

Supplement: 40246_2024_604_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."