Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.R7fs
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WDR45

NM_001029896.2:p.R7fs

Associated Papers

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Takano K et al.

European Journal of Medical Genetics, 2017

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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."