Varaico: Literature-Extracted Genetic Variants

Gene:OPN1LW
Variant:p.K83E
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OPN1LW

NM_020061.6:p.K83E

Associated Papers

APECED-causing mutations in AIRE reveal the functional domains of the protein.

Halonen M et al.

Human Mutation, 2004

Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.

Meyer G et al.

Journal of Endocrinological Investigation, 2002

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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."