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Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Gorka Fernández-Eulate et al.
HAL (France) · Papers
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Objective Glycosylphosphatidylinositol ( GPI )‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI ‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype
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