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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPTN

Variant:p.E315A

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OPTN

NM_001008212.2:p.E315A

hg38:chr10:13124056 A>C

Associated Papers

Linear ubiquitin chain-binding domains.

Fennell LM et al.

The Febs Journal, 2018

29679476 (PubMed )

Immune diseases caused by mutations in kinases and components of the ubiquitin system.

Cohen P

Nature Immunology, 2014

24840983 (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."