Associated Papers
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S et al.
Nature Communications, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
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
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