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Khabre desk
Recent reporting, analysis and explainers from the Genetic And Genomic Medicine desk.
health
A medRxiv preprint reports that RNF213 activity is regulated by a switch between closed and open protein dimers. The authors say Moyamoya-associated mutations can destabilise the closed state and bypass this control in laboratory experiments.
health
A medRxiv preprint describes a six-site RNA-splicing signature that distinguished 19 people with a specific RNU4-2 variant from study controls. The researchers propose it as a biomarker for therapeutic development, with results so far focused on T-loop variants.
health
A medRxiv preprint combines single-molecule testing of 91 KIF1A variants with longitudinal clinical data from 343 patients to classify disease trajectories and predict adaptive-behavior scores.