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20 results
  1. 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 ...
  2. NLM Grantee Spotlight 
    https://www.nlm.nih.gov/ep/Spotlight1.html
    ... performed whole-exome sequencing to identify functional non-synonymous variants in protein-coding regions associated with atrophy rate of hippocampal volume. ...
  3. 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 ...
  4. pdffy2002.pdf 
    https://www.nlm.nih.gov/ocpl/anreports/fy2002.pdf
    ... 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 ...
  5. Campomelic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1760
    ... activate target genes during organogenesis. Gene structure. The coding ... level, one frequent synonymous variant within codon 169 leaves the encoded amino ...
  6. 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 ...
  7. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... NG, Zhu CB, Lindler KM, et al. Rare coding variants of the adenosine A3 receptor are increased ... multisensory stimuli in autism spectrum disorder: a predictive coding perspective. J Neural Transm (Vienna). 2016 Jun 20 ...
  8. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... al 2011 ]. POLR1B Gene structure. POLR1B comprises 15 coding exons, with 17 splice variants. The most common ... al 2020 ]. POLR1C Gene structure. POLR1C comprises nine coding exons, with two isoforms . The longest transcript contains ...
  9. pdfNational Library of Medicine - Programs and Services, Fiscal Year 2003 
    https://www.nlm.nih.gov/ocpl/anreports/fy2003.pdf
    ... vocabulary originally developed to assist NLM in mapping synonymous terms from various drug vocabularies present in the ... Examples include markers for sequence variation such as SNPs, or single nucleotide polymorphisms, and genomic position landmarks ...
  10. Von Hippel-Lindau Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1463
    ... Single- gene testing. Sequence analysis of the VHL coding region , intron 1, and flanking sequences will identify ... with no identified VHL pathogenic variant in the coding region , sequencing analysis of intron 1 should be ...
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