Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.S263L
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AAAS

NM_015665.6:p.S263L

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

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Krumbholz M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006

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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."