Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.R219fs
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WDR45

NM_007075.4:p.R219fs

Associated Papers

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Staněk D et al.

Orphanet Journal of Rare Diseases, 2018

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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."