Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.Q41_W42Splc
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AAAS

NM_015665.6:p.Q41_W42Splc

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

Triple A syndrome: 32 years experience of a single centre (1977-2008).

Milenkovic T et al.

European Journal of Pediatrics, 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."