Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.L356delFs
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AAAS

NM_015665.6:p.L356delFs

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

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Çamtosun E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

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

Kurnaz E et al.

European Journal of Pediatrics, 2018

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

Patt H et al.

Endocrine Connections, 2017

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

Salmaggi A et al.

Hormone Research, 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

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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."