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Articles

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

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By Briere LC, Alvarez AN, Crawford MW, Sweetser DA
| nlm.nih.gov
This is a preprint. It has not yet been peer reviewed by a journal. The National Library of Medicine is running a pilot to include preprints that result from research funded by NIH in PMC and PubMed. Display options Abstract Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress.
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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

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By Jangam SV, Briere LC, Jay KL, Andrews JC
| ncbi.nlm.nih.gov
Save citation to file Format: Add to My Bibliography Your saved search Name of saved search: Search terms: Frequency: Which day? Which day? Report format: Send at most: Send even when there aren't any new results Optional text in email: Create a file for external citation management software
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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling - PubMed

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By Briere LC, Walker MA, Al-Badri N, Kroes HY
| ncbi.nlm.nih.gov
Save citation to file Format: Add to My Bibliography Your saved search Name of saved search: Search terms: Frequency: Which day? Which day? Report format: Send at most: Send even when there aren't any new results Optional text in email: Create a file for external citation management software
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