Figure S1. Significant variants diagrams for UGT1A1 gene. Figure S2. Results of NaCl induced OFT. Table S1. Multi-gene panel for targeted sequencing. Table S2. List of protein simulation templates. Table S3. List of significant variants detected in RBC membrane protein-encoding genes. Table S4. Primer sets for all significant variants in RBC membrane protein-encoding genes. Table S5. List of significant variants detected in RBC enzyme-encoding genes among patients with HS. Table S6. List of UGT1A1 gene variants in patients with HS in Korea. Table S7. Clinical characteristics of patients with HS without peripheral blood spherocytes. Table S8. Patients without RBC membrane-encoding gene mutation. (DOCX 114 kb
is Figure S1 showing cellular characteristics and HPC/HSC reprogramming. A Identification of HPC/HSC...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Accumulative mapping rate of four aligners. Figure S2. SNP calling sensitivity at 0.05–1 % divergenc...
Pedigrees, sequencing chromatograms of disease-causing gene related to HSP families in our cohort. F...
Figure S1. Number of genes investigated previously within the context of routine diagnostics and inc...
Distribution of all variants (a) and variants with likely pathogenic effect (b) by gene. Frequency o...
Table S1. Details of primers used for Sanger sequencing to validate the variants identified by next ...
Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...
Genes in the panel design. Table S2. Summary of coverage for coding exons and flanking regions (+ 2b...
Genotype distribution of overall ischemic stroke. Table S2. Genotype distribution of large vessel di...
Showing gene expression profile of the differentiated cells. (a) qRT-PCR analysis of hematopoietic ...
List of 22 genes associated with monogenic forms of diabetes that were analyzed in this paper. Table...
(a) IGV screenshot over the RAB27A c.148_149delinsC indel missed by the variant calling. (b) Coverag...
Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...
Figure S1. showing sequencing results of parental and inserted iPSCs. a Parental iPSCs have the know...
is Figure S1 showing cellular characteristics and HPC/HSC reprogramming. A Identification of HPC/HSC...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Accumulative mapping rate of four aligners. Figure S2. SNP calling sensitivity at 0.05–1 % divergenc...
Pedigrees, sequencing chromatograms of disease-causing gene related to HSP families in our cohort. F...
Figure S1. Number of genes investigated previously within the context of routine diagnostics and inc...
Distribution of all variants (a) and variants with likely pathogenic effect (b) by gene. Frequency o...
Table S1. Details of primers used for Sanger sequencing to validate the variants identified by next ...
Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...
Genes in the panel design. Table S2. Summary of coverage for coding exons and flanking regions (+ 2b...
Genotype distribution of overall ischemic stroke. Table S2. Genotype distribution of large vessel di...
Showing gene expression profile of the differentiated cells. (a) qRT-PCR analysis of hematopoietic ...
List of 22 genes associated with monogenic forms of diabetes that were analyzed in this paper. Table...
(a) IGV screenshot over the RAB27A c.148_149delinsC indel missed by the variant calling. (b) Coverag...
Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...
Figure S1. showing sequencing results of parental and inserted iPSCs. a Parental iPSCs have the know...
is Figure S1 showing cellular characteristics and HPC/HSC reprogramming. A Identification of HPC/HSC...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Accumulative mapping rate of four aligners. Figure S2. SNP calling sensitivity at 0.05–1 % divergenc...