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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP3B1

Variant:p.V315A

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AP3B1

NM_003664.5:p.V315A

hg38:chr5:78177435 A>G

Associated Papers

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

34573280 (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."