Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.F157fs
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AAAS

NM_015665.6:p.F157fs

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

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

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."