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Pathogenic and likely pathogenic variants in OTC and GLA identified in hospital biobank participants
Gene schematic of OTC (top) and GLA (bottom) showing pathogenic or likely pathogenetic variants (PLPVs) identified in the Mass General Brigham Biobank and Penn Medicine Biobank. Pathogenic variants are bolded. PLPVs identified in individuals with one X chromosome are in blue, and PLPVs identified in individuals with two X chromosomes are in purple.
