Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.K102delFs
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AIRE

NM_000383.4:p.K102delFs

Associated Papers

Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.

Zhan F et al.

Immunologic Research, 2021

A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.

Yan Z et al.

Medicine, 2020

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Kim JH et al.

Clinical Endocrinology, 2015

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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."