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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPTN

Variant:p.E540V

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OPTN

NM_001008212.2:p.E540V

hg38:chr10:13136751 A>T

Associated Papers

Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation.

Stangou AJ et al.

Blood, 2010

19633201 (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."