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11 results
  1. Prothrombin Thrombophilia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1148
    ... 2. * indicates that the variant is in the 3’ untranslated region of F2 ; 96 indicates that the variant is ... 20210G>A pathogenic variant is located in the 3' untranslated region of F2 where it increases the efficiency and ...
  2. Beta-Thalassemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1426
    ... promoters, the polyadenylation signal, and the 5' or 3' untranslated region, as well as some splicing variants. Some β + ... kb, contains three exons and both 5' and 3' untranslated regions. HBB is regulated by an adjacent 5' promoter, ...
  3. Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1165
    ... that is expanded in DM1 lies in the 3' untranslated region of DMPK . Abnormal repeat lengths may reach several ... applicable 1. The CTG variant is in the 3' untranslated region of the gene (indicated by *), with the first ...
  4. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK1374
    ... region, splice junctions of non-coding exons, and 3' untranslated region [ Ionasescu et al 1996b , Flagiello et al 1998 , ... splice between exon one and exon two, and 3' untranslated region of NM_000166. Table 4. Notable GJB1 Pathogenic ...
  5. ELN-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584550
    ... in a frameshift with a readthrough in the 3' untranslated region or result in inclusion of noncoding sequences in ...
  6. TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5942
    ... triggering alternative splicing of intron 7 within its 3' untranslated region (UTR), leading to the destruction of its mRNA. ...
  7. Spinocerebellar Ataxia Type 8 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1268
    ... This repeat sequence is located in both the 3' untranslated region of ATXN8OS (CTG orientation) and as part of ...
  8. Fukuyama Congenital Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1206
    ... retrotransposon insertion of tandemly repeated sequences in the 3' untranslated region [ Kato et al 2004 ]. Asterisk denotes a variant ...
  9. Huntington Disease-Like 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1529
    ... encode polyalanine or polyleucine, or fall in the 3' untranslated region. The expression pattern and function of the exon ...
  10. 3-beta-hydroxysteroid dehydrogenase deficiency 
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency
    ... of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Mol Med Rep. ...
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