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10 results
  1. 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 ...
  2. 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 ...
  3. 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 ...
  4. 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 ...
  5. 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. ...
  6. 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 ...
  7. Genetics of Colorectal Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK126744
    ... that this results in an A 8 microsatellite coding sequence.[ 24 ] Although clinical assays to assess for ... techniques. Comprehensive genetic testing includes sequencing the entire coding region of a gene, the intron - exon boundaries ( ...
  8. X-Linked Otopalatodigital Spectrum Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1393
    ... individuals with TODPD have been heterozygous for the synonymous change c.5217G>A , which induces a splicing ... if causative pathogenic variants lie in the 5' coding region of an alternative transcript in the FLNA ...
  9. Short-Chain Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK63582
    ... ten exons and includes 1,238 nucleotides of coding sequence [ Jethva et al 2008 ]. For a detailed ... the first SCAD-disease-causing allele carrying a synonymous mutation. BBA Clin. 2016; 5 :114–9. [ PMC ...
  10. Charcot-Marie-Tooth Neuropathy X Type 5 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1876
    ... not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods ... et al [2007] described their observation of a synonymous variant, c.447G>A, with an allele frequency ...