Information on known pathogenic or expected pathogenic variants according to the ACMG reportable genes. (DOCX 65 kb
Table S1. 101 gene panel. The gene list of targeted capture panel used in the case. (XLSX 11Â kb
Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...
All recessive variants identified in cases T1, T2 and T3. The de novo dominant variants have been fu...
Sequencing depth and breadth of the overall target region and 59 gene-specific regions. (XLSX 61 kb
23 candidate genes identified in the Chinese family with epilepsy, by whole-exome sequencing. (DOCX ...
Age and gender distributions in our cohort. All 421 subjects were under 18Â years old at the time of...
Supplemental Methods. Detailed methods on DNA preparation, hybridization, exome sequencing, variant ...
Table S2. InterVar classification of ACMG SF v2.0 cancer genes after expert review. (XLSX 30 kb
Supplementary Materials and Tables. (a) The process of whole-exome sequencing (WES) analysis. (b) Ta...
Supplementary table reporting single gene de novo or hemizygous deletions or intragenic duplications...
Basic genotyping information of 40 GWAÂ studies-derived SNPs in Chinese children. (XLSX 16 kb
Table S2. Shows all causative mutations identified in 72 patients from 68 families suffering from pr...
Additional file 1: Table S1. Blood routine test findings of the children with XHIGM
Table S2. Recessive variants shared by a common gene in at least two different trios. Possibly patho...
Filtering statistics for the SNVs and InDels called from the exome sequencing data. (DOCX 12 kb
Table S1. 101 gene panel. The gene list of targeted capture panel used in the case. (XLSX 11Â kb
Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...
All recessive variants identified in cases T1, T2 and T3. The de novo dominant variants have been fu...
Sequencing depth and breadth of the overall target region and 59 gene-specific regions. (XLSX 61 kb
23 candidate genes identified in the Chinese family with epilepsy, by whole-exome sequencing. (DOCX ...
Age and gender distributions in our cohort. All 421 subjects were under 18Â years old at the time of...
Supplemental Methods. Detailed methods on DNA preparation, hybridization, exome sequencing, variant ...
Table S2. InterVar classification of ACMG SF v2.0 cancer genes after expert review. (XLSX 30 kb
Supplementary Materials and Tables. (a) The process of whole-exome sequencing (WES) analysis. (b) Ta...
Supplementary table reporting single gene de novo or hemizygous deletions or intragenic duplications...
Basic genotyping information of 40 GWAÂ studies-derived SNPs in Chinese children. (XLSX 16 kb
Table S2. Shows all causative mutations identified in 72 patients from 68 families suffering from pr...
Additional file 1: Table S1. Blood routine test findings of the children with XHIGM
Table S2. Recessive variants shared by a common gene in at least two different trios. Possibly patho...
Filtering statistics for the SNVs and InDels called from the exome sequencing data. (DOCX 12 kb
Table S1. 101 gene panel. The gene list of targeted capture panel used in the case. (XLSX 11Â kb
Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...
All recessive variants identified in cases T1, T2 and T3. The de novo dominant variants have been fu...
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