ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/005/SRR6740275/SRR6740275_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/003/SRR6740273/SRR6740273_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/003/SRR6740273/SRR6740273_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/004/SRR6740274/SRR6740274_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/002/SRR6740272/SRR6740272_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/005/SRR6740275/SRR6740275_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/004/SRR6740274/SRR6740274_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR674/002/SRR6740272/SRR6740272_2.fastq.gzprimaryOK200Genomicsuniversity of Strasbourghttps://www.ebi.ac.uk/ena/browser/view/PRJNA434369xref:EuropePMC:PMC6225799The aim of this study was to understand why two siblings carrying both the same homozygous causal mutation for the auto-inflammatory disease hyper IgD syndrome show opposite phenotypes, i.e. the first being asymptomatic, the second presenting all classical characteristics of the disease.ENAfalseExome data of Mevalonate kinase deficiency family2023-05-192018-03-01PRJNA434369