Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.V369insFs
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AAAS

NM_015665.6:p.V369insFs

Associated Papers

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

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

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Huebner A et al.

Endocrine Research, 2004

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Brooks BP et al.

Bmc Ophthalmology, 2004

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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."