Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.V290A
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AAAS

NM_015665.6:p.V290A

Associated Papers

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

Chromosomal fragility in patients with triple A syndrome.

Reshmi-Skarja S et al.

American Journal of Medical Genetics. Part A, 2003

New insights into the molecular basis of the triple A syndrome.

Huebner A et al.

Endocrine Research, 2002

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K et al.

Human Molecular Genetics, 2001

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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."