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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP5Z1

Variant:p.R303C

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AP5Z1

NM_014855.3:p.R303C

hg38:chr7:4785024 C>T

Associated Papers

Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.

Lerner LK et al.

Scientific Reports, 2020

31992747 (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."