Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.Q397delFs
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EGLN2

NM_080732.4:p.Q397delFs

Associated Papers

Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity.

Peterson P et al.

Journal of Autoimmunity, 2005

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

Halonen M et al.

Human Mutation, 2004

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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."