Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.G257delFs
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AAAS

NM_015665.6:p.G257delFs

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

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

Musa SA et al.

Frontiers in Endocrinology, 2025

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

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

Bitetto G et al.

Human Molecular Genetics, 2019

Allgrove syndrome and motor neuron disease.

de Freitas MRG et al.

Neurology International, 2018

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

Patt H et al.

Endocrine Connections, 2017

Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.

Li W et al.

Experimental and Therapeutic Medicine, 2015

[Allgrove syndrome in the mainland of China: clinical report and mutation analysis].

Gong CX et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007

Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene.

Lam YY et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006

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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."