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Dominant PURA variants cause a neurodevelopmental disorder with hypotonia, cognitive impairment, and variable neuromuscular symptoms. Clinical response to pyridostigmine suggests neuromuscular junction (NMJ) involvement, but NMJ architecture, molecular mechanisms, and minimally invasive biomarkers r...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD067750 | Pride
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