Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.M1_C2insFs
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AAAS

NM_015665.6:p.M1_C2insFs

Associated Papers

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

Patt H et al.

Endocrine Connections, 2017

A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome.

Huynh T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009

Adrenocorticotropin resistance syndromes.

Cooray SN et al.

Endocrine Development, 2008

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Huebner A et al.

Endocrine Research, 2004

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Brooks BP et al.

Bmc Ophthalmology, 2004

Chromosomal fragility in patients with triple A syndrome.

Reshmi-Skarja S et al.

American Journal of Medical Genetics. Part A, 2003

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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."