Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
19 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. pdfNational Library of Medicine Programs and Services FY2014 
    https://www.nlm.nih.gov/ocpl/anreports/fy2014.pdf
    ... over 47,634 new or updated RefSeq protein-coding, non-coding, and pseudogene records. During FY2014, 31,432 ... Los Angeles Gerek, Zeynep N Computational diagnosis of non-synonymous variations using structural dynamics 1 R21 LM011941-01 ...
  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. 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 ...
  6. 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 ...
  7. NLM Digital Collections - Letter from Jack Spiegel, National Institutes of Health. Office of Technology Transfer to ... 
    Publication: Produced: 14 September 1998
    resource.nlm.nih.gov/101584926X393
    ... the cDNA is intended to represent, and be synonymous with, the coding region of the molecule. Respondent is not aware ...
  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. ...
previous · 1 · 2 · next