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Showing 1 to 1 of 1 for “"UBE2T"”.
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Molecular Characterization of Novel Mutations in Fanconi Anemia Patients
… of the ubiquitin-conjugating enzyme (E2), UBE2T. No pathogenic gene variants were identified by WES, but RNA sequencing (RNA-seq) uncovered a significant decrease in UBE2T transcript, and western blot confirmed deficiency of UBE2T protein. Sanger sequencing of genomic DNA revealed a large …