Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.G47A
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EXOSC3

NM_016042.4:p.G47A

Associated Papers

Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.

Ehlers L et al.

The Journal of Allergy and Clinical Immunology, 2025

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.

Gibson KM et al.

Arthritis & Rheumatology (hoboken, N.j.), 2019

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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."