Varaico: Literature-Extracted Genetic Variants

Gene:PSMC5
Variant:p.P320R
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PSMC5

NM_002805.6:p.P320R

Associated Papers

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry S et al.

Nature Communications, 2025

Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders.

Vinci M et al.

International Journal of Molecular Sciences, 2025

PSMC5 insufficiency and P320R mutation impair proteasome function.

Yu ZQ et al.

Human Molecular Genetics, 2024

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Kaplanis J et al.

Nature, 2020

33057194 (PubMed )
Supplement: EMS114546-supplement-Suppl_notes__figures__tables.pdf

The mechanism underlying the oncogenic potential of AAA+ ATPase PSMC4 in cancer is revealed by mutations and copy number amplifications.

Mallick S et al.

Mutation Research, 0

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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."