Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.R155H
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AAAS

NM_015665.6:p.R155H

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

A triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene.

Boz PB et al.

Ideggyogyaszati Szemle, 2025

Don't forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker.

Vigano' M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.

Bitetto G et al.

Orphanet Journal of Rare Diseases, 2023

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

Jayant SS et al.

Hormones (athens, Greece), 2021

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.

Hentschel A et al.

Orphanet Journal of Rare Diseases, 2021

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

Triple A syndrome in Japan.

Ikeda M et al.

Muscle & Nerve, 2013

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

Nakamura K et al.

Journal of the Neurological Sciences, 2010

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.

Salmaggi A et al.

Hormone Research, 2008

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

Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease.

Kimber J et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2003

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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."