Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.Y19_E20delFs
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AAAS

NM_015665.6:p.Y19_E20delFs

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

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Khalfallah R et al.

Annales D'endocrinologie, 2025

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Musa SA et al.

Frontiers in Endocrinology, 2025

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

Patt H et al.

Endocrine Connections, 2017

Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.

Brown B et al.

The American Journal of Case Reports, 2016

An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome.

Qin K et al.

Molecular Genetics and Metabolism, 2007

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.

Weiman DI et al.

Child Neurology Open, 0

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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."