Varaico: Literature-Extracted Genetic Variants

Gene:PSMD12
Variant:p.K303Splc
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PSMD12

NM_002816.5:p.K303Splc

Associated Papers

Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.

Zhang J et al.

Journal of Clinical Immunology, 2024

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Küry S et al.

American Journal of Human Genetics, 2017

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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."