Varaico: Literature-Extracted Genetic Variants

Gene:PSMC3
Variant:p.I291V
Back to variants list

PSMC3

NM_002804.5:p.I291V

Associated Papers

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Ebstein F et al.

Science Translational Medicine, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."