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  1. pdfNational Library of Medicine - Programs and Services, Fiscal Year 1998 
    https://www.nlm.nih.gov/ocpl/anreports/fy1998.pdf
    ... including the analysis of the translation machinery, non-coding sequence conservation in vertebrates, synonymous and non-synonymous substitution distances in mouse and rat genes, ...
  2. 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. ...
  3. 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 ...
  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. Cantú Syndrome and Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK246980
    ... p.Val1137Ile), c.2200G>A (p.Val734Ile); the coding synonymous variants (no change in amino acid residue indicated ...
  7. Campomelic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1760
    ... Farlie PG, Fitzpatrick DR, Lyonnet S. Highly conserved non-coding elements on either side of SOX9 associated with ...
  8. pdf2012 NLM Training Conference 
    https://www.nlm.nih.gov/.../TC2012TrainingConferenceBook.pdf
    ... 1q41, 3q22.3 and 15q21.3. Only one SNP lies within a known gene, NEDD4 on chromosome ... sample size from genome-wide single nucleotide polymorphism (SNP) data. Phenotypes were simulated for case-control datasets ...
  9. Chorea-Acanthocytosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1387
    ... not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods ... with mood disorder; they found three nonsynonymous, two synonymous, and six intron variants that were absent from ...
  10. Von Hippel-Lindau Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1463
    ... codon 167 is considered a mutational " hot spot ." Synonymous pathogenic variants in VHL exon 2 that alter ... von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. ...
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