Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.M1I
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AIRE

NM_000383.4:p.M1I

Associated Papers

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

[NR5A1 and ovarian failure].

Bashamboo A et al.

Medecine Sciences : M/s, 2009

Mutations in NR5A1 associated with ovarian insufficiency.

Lourenço D et al.

The New England Journal of Medicine, 2009

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

Lyly A et al.

Bmc Cell Biology, 2007

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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."