Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.R155P
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AAAS

NM_015665.6:p.R155P

Associated Papers

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

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

Patt H et al.

Endocrine Connections, 2017

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

The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene.

Salehi M et al.

Metabolism: Clinical and Experimental, 2005

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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."