ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR241/083/SRR24186683/SRR24186683.fastq.gzprimaryOK200GenomicsHunan Provincial Maternal and Child Health Care Hospitalhttps://www.ebi.ac.uk/ena/browser/view/PRJNA934148Homo sapiensThe synonymous mutation c.2376G>A leads to aberrant splicing of the EMC1 transcripxref:EuropePMC:PMC10175691ENAfalseHomo sapiensNon-silent synonymous exonic mutationc.2376G>A (p.Val792=) in EMC12025-09-242023-02-15PRJNA9341489606