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169 results
  1. NLM Grantee Spotlight 
    https://www.nlm.nih.gov/ep/Spotlight1.html
    ... he performed whole-exome sequencing to identify functional non-synonymous variants in protein-coding regions associated with atrophy rate of hippocampal volume. ...
  2. pdffy2002.pdf 
    https://www.nlm.nih.gov/ocpl/anreports/fy2002.pdf
    ... with NR_ was added to RefSeq and represents non-protein coding RNAs. The most common forms of sequence variations are single nucleotide polymorphisms, or SNPs. SNP detection and discovery is expected to facilitate ...
  3. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... 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 ...
  4. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... 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 ...
  5. pdfNational Library of Medicine Programs and Services FY2014 
    https://www.nlm.nih.gov/ocpl/anreports/fy2014.pdf
    ... Los Angeles Gerek, Zeynep N Computational diagnosis of non-synonymous variations using structural dynamics 1 R21 LM011941-01 ...
  6. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK1374
    ... 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 ...
  7. RNU4atac-opathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589232
    ... 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 ...
  8. ATP1A3-Related Neurologic Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1115
    ... see Table A , Gene . Benign variants. Several common coding SNPs are reported in dbSNP . Pathogenic variants RDP. To ...
  9. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... of CDKN2A pathogenic variants looked at four common non-synonymous MC1R variants and found that having one variant ...
  10. Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84550
    ... B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol ...
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