Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.Q422_K425delFs
Back to variants list

AAAS

NM_015665.6:p.Q422_K425delFs

Associated Papers

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.

Juścińska E et al.

Neurogenetics, 2026

41498959 (PubMed )
Supplement: 10048_2025_870_MOESM1_ESM.docx

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."