Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.S382fs
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AAAS

NM_015665.6:p.S382fs

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Buonocore F et al.

Journal of the Endocrine Society, 2021

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Singh K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Allgrove syndrome and motor neuron disease.

de Freitas MRG et al.

Neurology International, 2018

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
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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."