Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S185*
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AIRE

NM_000383.4:p.S185*

Associated Papers

Autoimmune Polyendocrinopathy.

Frommer L et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

Orlova EM et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."