Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq. Am J Med Genet A. 2023 12; 191(12):2908-2912.