Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"Clinical variants"”.
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Impact of Neurodevelopmental Disorder-Associated Clinical Variants on the Catalytic Activity of KMT5B
… repair and heterochromatin formation. Missense variants found in KMT5B cause a related neurodevelopmental disorder in which patients experience neurodevelopmental phenotypes like developmental delay (DD), intellectual deficits (ID), autism spectrum disorder (ASD), seizures, and motor deficits. …
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Investigating the Double-Edged Sword of Rifampicin Resistance in Mycobacterium Tuberculosis
… sword of RifR in βS450L Mtb, the most clinically common RifR conferring mutation, which accounts for over 70% of all RifR Mtb in the clinic. Employing genome-wide CRISPR interference (CRISPRi) screens, we identified genes with differential sensitivity to inhibition in RifR Mycobacterium …