Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.V421insFs
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AAAS

NM_015665.6:p.V421insFs

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

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Patt H et al.

Endocrine Connections, 2017

Triple A syndrome: 32 years experience of a single centre (1977-2008).

Milenkovic T et al.

European Journal of Pediatrics, 2010

Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.

Milenković T et al.

European Journal of Pediatrics, 2008

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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."