Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.Y19*
Back to variants list

AAAS

NM_015665.6:p.Y19*

Associated Papers

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Khalfallah R et al.

Annales D'endocrinologie, 2025

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Musa SA et al.

Frontiers in Endocrinology, 2025

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

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

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.

Weiman DI et al.

Child Neurology Open, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."