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15 results
  1. Sepiapterin Reductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK304122
    ... heterozygous for a SPR pathogenic variant in the 5’ untranslated region with a mild form of L-dopa-responsive ... with a heterozygous SPR pathogenic variant in the 5’ untranslated region and a mild L-dopa-responsive dystonia phenotype [ ...
  2. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... et al.: A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/ ... et al.: A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/ ...
  3. Epidermolysis Bullosa with Pyloric Atresia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1157
    ... exon 1 as well as use of different 5' untranslated regions. At least ten other variant transcripts have been ... produced by alternative splicing and use of different 5' untranslated regions [ Rezniczek et al 2003 ]. Abnormal gene product . Loss ...
  4. Anhidrotic ectodermal dysplasia with immune deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...todermal-dysplasia-with-immune-deficiency
    ... modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene. J Allergy Clin Immunol. ...
  5. Detailed Methods - Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A ... 
    https://www.ncbi.nlm.nih.gov/books/NBK545871
    ... N, et al. Implication of BRCA2 -26G>A 5’ untranslated region polymorphism in susceptibility to sporadic breast cancer and ...
  6. DCN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dcn
    ... discovery of two alternatively spliced exons in the 5' untranslated region, and mapping of the gene to chromosome 12q23. ...
  7. Late Effects of Treatment for Childhood Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65832
    ... for a 28–base pair repeat within the 5’ untranslated region of the TS gene are at increased risk ...
  8. Dopa-responsive dystonia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia
    ... Zuker M, Hummel S, Muller U. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient ...
  9. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... reading frame is preceded by a 93-bp 5' untranslated region (UTR) and followed by a 507-bp 3' ...
  10. BCS1L gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bcs1l
    ... Arenas J, Ugalde C. Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ...
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