Sequencing results of STXBP2 gene. Two mutations of STXBP2 gene, c.575G>A (p.Arg192His) in P10, and c.767T>C (p.Leu256Pro) in P11, were found in one male and one female, respectively. (TIF 985 kb
Figure S1. Comparison of the predicted amino acid sequence of PB1-F2 proteins expressed by H3N2 viru...
Figure S1. Flow diagram of patients enrollment. PJS indicates Peutz-Jeghers syndrome. Figue S2. The ...
Polyphen-2 reports for the pathogenicity of the mutant amino acid residues in STK11. The amino acid ...
(a) IGV screenshot over the RAB27A c.148_149delinsC indel missed by the variant calling. (b) Coverag...
Distribution of all variants (a) and variants with likely pathogenic effect (b) by gene. Frequency o...
Genotype and phenotype variation in some reported cases of SH2D1A and PRF1 genes. (DOCX 27 kb
Figure S1. Comparison of somatic mutation frequency between IBC and non-IBC in four subgroups. (a) T...
Percentage of CD107a expression in NK cells from 43 controls and 36 HLH patients. (DOCX 15 kb
A screen-shot of VIKING showing variants identified by DRAGEN in WGS26 of sample UDT_103, a patient ...
Table S1. Mutation profiles of BLS genes in colorectal, melanoma, gastric, and uterine cancers. Tabl...
Scatterplot of NK cell cytotoxic activity, displayed as lytic units at 25 % specific lysis, and freq...
Figure S1. showing sequencing results of parental and inserted iPSCs. a Parental iPSCs have the know...
Monoallelic rare variants with in silico pathogenic predictions identified in the patients without a...
Figure S1. Significant variants diagrams for UGT1A1 gene. Figure S2. Results of NaCl induced OFT. Ta...
Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...
Figure S1. Comparison of the predicted amino acid sequence of PB1-F2 proteins expressed by H3N2 viru...
Figure S1. Flow diagram of patients enrollment. PJS indicates Peutz-Jeghers syndrome. Figue S2. The ...
Polyphen-2 reports for the pathogenicity of the mutant amino acid residues in STK11. The amino acid ...
(a) IGV screenshot over the RAB27A c.148_149delinsC indel missed by the variant calling. (b) Coverag...
Distribution of all variants (a) and variants with likely pathogenic effect (b) by gene. Frequency o...
Genotype and phenotype variation in some reported cases of SH2D1A and PRF1 genes. (DOCX 27 kb
Figure S1. Comparison of somatic mutation frequency between IBC and non-IBC in four subgroups. (a) T...
Percentage of CD107a expression in NK cells from 43 controls and 36 HLH patients. (DOCX 15 kb
A screen-shot of VIKING showing variants identified by DRAGEN in WGS26 of sample UDT_103, a patient ...
Table S1. Mutation profiles of BLS genes in colorectal, melanoma, gastric, and uterine cancers. Tabl...
Scatterplot of NK cell cytotoxic activity, displayed as lytic units at 25 % specific lysis, and freq...
Figure S1. showing sequencing results of parental and inserted iPSCs. a Parental iPSCs have the know...
Monoallelic rare variants with in silico pathogenic predictions identified in the patients without a...
Figure S1. Significant variants diagrams for UGT1A1 gene. Figure S2. Results of NaCl induced OFT. Ta...
Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...
Figure S1. Comparison of the predicted amino acid sequence of PB1-F2 proteins expressed by H3N2 viru...
Figure S1. Flow diagram of patients enrollment. PJS indicates Peutz-Jeghers syndrome. Figue S2. The ...
Polyphen-2 reports for the pathogenicity of the mutant amino acid residues in STK11. The amino acid ...
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