Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.G14fs
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AAAS

NM_015665.6:p.G14fs

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

Fertility and sexual activity in patients with Triple A syndrome.

Dumic KK et al.

Frontiers in Endocrinology, 2024

Generation of glucocorticoid-producing cells derived from human pluripotent stem cells.

Ruiz-Babot G et al.

Cell Reports Methods, 2023

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

Capalbo D et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Lorea CF et al.

Cerebellum (london, England), 2020

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

Patt H et al.

Endocrine Connections, 2017

29180348 (PubMed )
Supplement: ec-6-901-t002.xls › Combined_Stat

The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.

Carvalhal S et al.

Molecular Biology of the Cell, 2015

The genetic basis of triple A (Allgrove) syndrome in a Greek family.

Papageorgiou L et al.

Gene, 2013

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

Dumic M et al.

European Journal of Pediatrics, 2012

Adult or late-onset triple A syndrome: case report and literature review.

Nakamura K et al.

Journal of the Neurological Sciences, 2010

Triple A syndrome mimicking ALS.

Strauss M et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2008

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

Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.

Mukhopadhya A et al.

World Journal of Gastroenterology, 2006

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Krumbholz M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 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."