Varaico: Literature-Extracted Genetic Variants

Gene:AP3D1
Variant:p.E416K
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AP3D1

NM_001261826.3:p.E416K

Associated Papers

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 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."