Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.L93R
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PAG1

NM_018440.4:p.L93R

Associated Papers

Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.

Sparks AE et al.

The Journal of Biological Chemistry, 2016

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."