Varaico: Literature-Extracted Genetic Variants

Gene:PSMB8
Variant:p.T74S
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PSMB8

NM_148919.4:p.T74S

Associated Papers

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.

Alexeeva E et al.

Frontiers in Medicine, 2023

When extended genetics rescues diagnosis: a patient with CANDLE-like phenotype and de novo mutation in the SAMD9L gene.

Remy A et al.

Annals of the Rheumatic Diseases, 2022

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.

Sandling JK et al.

Annals of the Rheumatic Diseases, 2021

33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

Genetics of proteasome diseases.

Gomes AV

Scientifica, 2013

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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."