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19 results
  1. ... 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. ... he performed whole-exome sequencing to identify functional non-synonymous variants in protein-coding regions associated with atrophy rate of hippocampal volume. ...
  3. ... 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. ... 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. ... Los Angeles Gerek, Zeynep N Computational diagnosis of non-synonymous variations using structural dynamics 1 R21 LM011941-01 ...
  6. ... p.Val1137Ile), c.2200G>A (p.Val734Ile); the coding synonymous variants (no change in amino acid residue indicated ...
  7. ... Farlie PG, Fitzpatrick DR, Lyonnet S. Highly conserved non-coding elements on either side of SOX9 associated with ...
  8. ... 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. ... 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. ... 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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