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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AAK1

Variant:p.E691*

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AAK1

NM_014911.5:p.E691*

hg38:chr2:69507514 C>A

Associated Papers

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Hildebrand MS et al.

Neurology, 2020

32345733 (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."