Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.P252L
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PAG1

NM_018440.4:p.P252L

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

Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.

Meloni A et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Ilmarinen T et al.

Human Mutation, 2005

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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."