Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.R194*
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AAAS

NM_015665.6:p.R194*

Associated Papers

The etiology and clinical features of non-CAH primary adrenal insufficiency in children.

Liu Z et al.

Frontiers in Pediatrics, 2022

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

Capalbo D et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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

Jayant SS et al.

Hormones (athens, Greece), 2021

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

Bitetto G et al.

Human Molecular Genetics, 2019

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Singh K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Allgrove syndrome and motor neuron disease.

de Freitas MRG et al.

Neurology International, 2018

Triple-A syndrome: a wide spectrum of adrenal dysfunction.

Roucher-Boulez F et al.

European Journal of Endocrinology, 2018

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

Patt H et al.

Endocrine Connections, 2017

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.

Cherif Ben Abdallah L et al.

Hormone Research in Paediatrics, 2014

Triple A syndrome in Japan.

Ikeda M et al.

Muscle & Nerve, 2013

Neurological features in adult Triple-A (Allgrove) syndrome.

Vallet AE et al.

Journal of Neurology, 2012

Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

Marín S et al.

Hormone Research in Paediatrics, 2012

A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome.

Huynh T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009

Triple A syndrome.

Menon SK et al.

Indian Journal of Pediatrics, 2008

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Dusek T et al.

Hormone Research, 2006

Two cases of Allgrove syndrome with mutations in the AAAS gene.

Kinjo S et al.

Endocrine Journal, 2004

Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.

Sheya A et al.

Indian Journal of Endocrinology and Metabolism, 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."