Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.N435delFs
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AAAS

NM_015665.6:p.N435delFs

Associated Papers

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

Musa SA et al.

Frontiers in Endocrinology, 2025

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.

Belmokhtar KY et al.

Molecular Syndromology, 2024

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

Bitetto G et al.

Human Molecular Genetics, 2019

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

Patt H et al.

Endocrine Connections, 2017

Triple A syndrome: two novel mutations in the AAAS gene.

Thümmler S et al.

Bmj Case Reports, 2009

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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."