Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.L356fs
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AAAS

NM_015665.6:p.L356fs

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.

Yıldırım R et al.

Endocrine, 2023

Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.

Yassaee VR et al.

Archives of Medical Research, 2011

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.

Salmaggi A et al.

Hormone Research, 2008

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Krumbholz M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006

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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."