Varaico: Literature-Extracted Genetic Variants

Gene:PSMF1
Variant:p.R242H
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PSMF1

NM_006814.5:p.R242H

Associated Papers

PI31 expression is neuroprotective in a mouse model of early-onset parkinsonism.

Rodriguez JA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Magrinelli F et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."