Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.S263A
Back to variants list

AAAS

NM_015665.6:p.S263A

Associated Papers

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.

Belmokhtar KY et al.

Molecular Syndromology, 2024

Clinical and genetic characterisation of a series of patients with triple A syndrome.

Kurnaz E et al.

European Journal of Pediatrics, 2018

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."