ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/061/SRR14293161/SRR14293161_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/063/SRR14293163/SRR14293163_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/063/SRR14293163/SRR14293163.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/062/SRR14293162/SRR14293162.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/063/SRR14293163/SRR14293163_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/062/SRR14293162/SRR14293162_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/061/SRR14293161/SRR14293161.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/061/SRR14293161/SRR14293161_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/062/SRR14293162/SRR14293162_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/064/SRR14293164/SRR14293164_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/064/SRR14293164/SRR14293164_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR142/064/SRR14293164/SRR14293164.fastq.gzprimaryOK200GenomicsBeijing Friendship Hospital, Capital Medical Universityhttps://www.ebi.ac.uk/ena/browser/view/PRJNA723506To identify novel missense mutations in NDUFAF5 gene as a cause of childhood BSN in members of a Chinese family and summarize the clinical characteristics of patients with the NDUFAF5genemutations.ENAfalseA novel variation in the mitochondrial complex I assembly factor NDUFAF5 causes isolated bilateral striatal necrosis in childhood2023-05-172021-06-11PRJNA723506