SBDS and inherited bone marrow failure syndrome: QuantSeq 3’ mRNA sequencing (RNA-seq) analysis was performed in 74 samples, including the discovery cohort of 60 patients with IBMFS and 14 healthy controls, and full-length RNA-seq analysis was performed on 18 samples, comprising 10, 4, and four patients with monoallelic SBDS variants, biallelic SBDS variants, and ADH5/ALDH2 deficiency, respectively.