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Following WES, Sanger sequencing was done to ensure the candidate variant.Result A novel nonsense variant (c.2041G T, p. E681X) had been identified in exon 14 of this BRAT1 gene. On the basis of the United states College of Medical Genetics and Genomics guideline this variant ended up being categorized as a pathogenic variant.Conclusion This research expands the spectrum of BRAT1 pathogenic alternatives in RMFSL syndrome and shows the utility of WES in geneti
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