Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Figure 1

Pedigrees of 5 new low GGT cholestasis patients with biallelic MYO5B variants. Five patients were found to be compound heterozygous or homozygous for variants in MYO5B (all by exome sequencing). ?, absence of the Sanger sequencing for sample not available; F, family; P, patient.