Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.G256W
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AAAS

NM_015665.6:p.G256W

Associated Papers

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.

Juścińska E et al.

Neurogenetics, 2026

41498959 (PubMed )
Supplement: 10048_2025_870_MOESM1_ESM.docx

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.

Vezzoli V et al.

Journal of Endocrinological Investigation, 2020

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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."