Associated Papers
Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.
Ahammed KS et al.
G3 (bethesda, Md.), 2025
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
Dabaj I et al.
Journal of Clinical Medicine, 2022
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto M et al.
Journal of Human Genetics, 2021
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