Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
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Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › APS-1_patient_cohort
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant.
Özer Y et al.
Molecular Syndromology, 2023
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