Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.A206delFs
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AAAS

NM_015665.6:p.A206delFs

Associated Papers

Double 'A' phenotypes with mineralocorticoid deficiency: A rare presentation of Allgrove syndrome.

Ghosh A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025

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

Bitetto G et al.

Human Molecular Genetics, 2019

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

Patt H et al.

Endocrine Connections, 2017

Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.

Krull I et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010

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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."