Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders
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L. Waddell | G. O'grady | F. Evesson | Katharine Y. Zhang | R. Minster | S. Viali | A. Charlton | T. Naseri | M. Reupena | Shobhana Bommireddipalli | S. Bryen | Sandra T. Cooper | T. Naseri | Gregory Dziaduch