Varaico: Literature-Extracted Genetic Variants

Gene:PSMC5
Variant:p.M138I
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PSMC5

NM_002805.6:p.M138I

Associated Papers

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

Küry S et al.

Nature Communications, 2025

41298377 (PubMed )
Supplement: 41467_2025_65556_MOESM3_ESM.xlsx › Supplementary_Table_1

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

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