Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.S255fs
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AAAS

NM_015665.6:p.S255fs

Associated Papers

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Singh K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Triple-A syndrome: a wide spectrum of adrenal dysfunction.

Roucher-Boulez F et al.

European Journal of Endocrinology, 2018

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Patt H et al.

Endocrine Connections, 2017

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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."