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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR45

Variant:p.A209delFs

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WDR45

NM_007075.4:p.A209delFs

hg38:chrX:49075645 AG>A

Associated Papers

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Carvill GL et al.

Epilepsia, 2018

29171013 (PubMed )

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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."