Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.D269fs
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WDR45

NM_007075.4:p.D269fs

Associated Papers

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

Tang X et al.

Molecular Genetics & Genomic Medicine, 2020

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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."