With its 2,214 amino acids and its dynamic lifestyle as an endosomal recycling receptor, SORL1 is rife with opportunities for mutations that could thwart its function. The size and splendor of this ...
DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on ...
Dr. Courtney states, “When the SYNGAP1 gene encodes a truncation, caused by a nonsense, frame-shift or other mutation, loss of SynGAP1 protein results in disease. But what happens when there is a ...
In a recent preprint study posted to Research Square* and under consideration at the journal Human Genomics, researchers investigated the connecting link between viral genetic variability and clinical ...
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