AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Lack of Gba1 activity induced changes in the osteoclast model which enhanced its bone resorption potential, demonstrating a major intrinsic osteoclastic defect in Gaucher disease of bone.
This study describes two patients with neurodevelopmental delay who carry de novo TRIM28 missense variants and demonstrates that these variants result in the loss of the histone mark H3K9me3 over TEs, establishing a link between TRIM28 variants and neurodevelopmental delay.
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