Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.L320delFs
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AIRE

NM_000383.4:p.L320delFs

Associated Papers

Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.

Humbert L et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Ochoa S et al.

Science Translational Medicine, 2024

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

Zhan F et al.

Immunologic Research, 2021

Long-term results of continuous subcutaneous recombinant PTH (1-34) infusion in children with refractory hypoparathyroidism.

Linglart A et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."