Table S1. Results of prediction of effect, using various bioinformatic tools, of various ‘pathogenic’ or ‘likely pathogenic’ non-synonymous genomic variations. Table S2. Results of prediction of effect, using various bioinformatic tools, of various ‘neutral’ non-synonymous genomic variations. Table S3. Synonymous genomic variations identified in Indian patients with PFIC syndrome (DOCX 24 kb)
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Pedigree of the Finnish family with four cases of polycythemia vera, and two cases of lymphoma. Exom...
Clinical characteristics of patients stratified by ethnicity and genotype polymorphism at rs738409 P...
Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...
Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...
Additional file 1: Supplementary Tables. Table S1. Variant grouping strategies of 48 Interleukin-1 p...
Additional file 1: Supplementary Tables. Table S1. Variant grouping strategies of 48 Interleukin-1 p...
Table S1. Details of primers used for Sanger sequencing to validate the variants identified by next ...
Analysis of the association between genotype polymorphism at rs738409 PNPLA3 and steatosis and advan...
In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...
Additional variants in the couples. Additional file describing additional possibly pathogenic varian...
Study-specific Methods Section for the Replication Section. Table S1. Replication Results for C-Reac...
Supplementary tables. Table S1. Assembly statistics. Table S2. Complete genomes used for compar ativ...
Pedigrees, sequencing chromatograms of disease-causing gene related to HSP families in our cohort. F...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Pedigree of the Finnish family with four cases of polycythemia vera, and two cases of lymphoma. Exom...
Clinical characteristics of patients stratified by ethnicity and genotype polymorphism at rs738409 P...
Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...
Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...
Additional file 1: Supplementary Tables. Table S1. Variant grouping strategies of 48 Interleukin-1 p...
Additional file 1: Supplementary Tables. Table S1. Variant grouping strategies of 48 Interleukin-1 p...
Table S1. Details of primers used for Sanger sequencing to validate the variants identified by next ...
Analysis of the association between genotype polymorphism at rs738409 PNPLA3 and steatosis and advan...
In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...
Additional variants in the couples. Additional file describing additional possibly pathogenic varian...
Study-specific Methods Section for the Replication Section. Table S1. Replication Results for C-Reac...
Supplementary tables. Table S1. Assembly statistics. Table S2. Complete genomes used for compar ativ...
Pedigrees, sequencing chromatograms of disease-causing gene related to HSP families in our cohort. F...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Pedigree of the Finnish family with four cases of polycythemia vera, and two cases of lymphoma. Exom...