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The latter accounts for the vast majority of severe disease burden (115)
We leveraged whole-genome, whole-exome and transcriptome sequencing (Methods) to detect genomic alterations including mutations, copy-number alterations, structural variants (SVs) and gene fusions (Fig
RNA sequencing data are deposited in the National Center for Biotechnology Informations Sequence Read Archive (PRJNA812502)
Immunoblot of UGDH in the indicated isogenic cell lines transduced with sg UGDH and expressing or not a sgRNA-resistant UGDH cDNA
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