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Khabre desk
Recent reporting, analysis and explainers from the genetic medicine desk.
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.
health
A medRxiv preprint maps a COL4A5 intronic mutation hotspot and reports that one antisense oligonucleotide restored normal RNA splicing and collagen expression for multiple variants in patient-derived cells. The work is a preclinical study, with no treatment of patients reported.