... Ma WJ, Hashii M, Munesue T, et al. Non-synonymous single-nucleotide variations of the human oxytocin receptor ... Pastori C, Zeier Z, et al. The long non-coding RNA FMR4 promotes proliferation of human neural precursor ...

... Ma WJ, Hashii M, Munesue T, et al. Non-synonymous single-nucleotide variations of the human oxytocin receptor ... Pastori C, Zeier Z, et al. The long non-coding RNA FMR4 promotes proliferation of human neural precursor ...

... variants in the upstream regulatory region, 5'UTR, non-coding exons, and 3'UTR are frequently associated with ... regulatory region, 5' untranslated region, splice junctions of non-coding exons, and 3' untranslated region [ Ionasescu et al ...

... Protein HGMD ClinVar RNU4ATAC 2q14 ​.2 N/A (non-coding RNA) RNU4ATAC RNU4ATAC Data are compiled from the ... Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PLoS One. 2020; 15 :e0235655. [ PMC ...

... see Table A , Gene . Benign variants. Several common coding SNPs are reported in dbSNP . Pathogenic variants RDP. To ...

... of CDKN2A pathogenic variants looked at four common non-synonymous MC1R variants and found that having one variant ...

... B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol ...

... A, Yatsenko SA, Surti U. Deletion of conserved non-coding sequences downstream from NKX2-1: a novel disease- ...

... Peter et al 2014 ] or including only adjacent non-protein coding genes [ Balci et al 2015 ] suggest that BCL11A ... to those with deletions encompassing BCL11A and only non-protein-coding adjacent regions. Those with larger deletions typically have ...

... J, Tickle C, Rappold G. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb ...