5 research outputs found
Additional file 4 of Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Additional file 4: Fig. S1. Sequencing results for 64 novel missense variants of the ATP7B gene. Fig. S2. Sequencing results for novel variants of the ATP7B gene except for missense variants. Fig. S3. Homology comparisons of novel missense variants in the ATP7B protein
Additional file 2 of Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Additional file 2: Table S2. Details of potential pathogenic variants of ATP7B identified in this study
Additional file 1 of Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Additional file 1: Table S1. Primers used for amplification and sequencing of exons and exon–intron boundaries of ATP7B
Additional file 3 of Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Additional file 3: Table S3. Non-pathogenic variants of ATP7B identified in this study
Additional file 5 of Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Additional file 5: Table S4. ATP7B variant combinations in this cohort
