ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/094/SRR11637894/SRR11637894_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/093/SRR11637893/SRR11637893_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/092/SRR11637892/SRR11637892_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/094/SRR11637894/SRR11637894_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/093/SRR11637893/SRR11637893_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/091/SRR11637891/SRR11637891_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/091/SRR11637891/SRR11637891_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR116/092/SRR11637892/SRR11637892_2.fastq.gzprimaryOK200GenomicsCBMSO-CSIChttps://www.ebi.ac.uk/ena/browser/view/PRJNA629061KCNQ2 exon 7 partial duplication associated to a severe epileptic and neurodevelopmental delayENAfalseKCNQ2 exon 7 partial duplication. 4 family members WES - fastq files2023-05-192020-05-06PRJNA629061