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34 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. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Untranslated Regions D13.444.735.544.875.885 5' Untranslated Regions D13.444.735.580 RNA, Mitochondrial D13.444. ... Untranslated Regions D13.444.735.790.878.885 5' Untranslated Regions D13.444.735.790.878.942 Regulatory Sequences, ...
  3. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... RNA Splice Sites Untranslated Regions 3' Untranslated Regions 5' Untranslated Regions RNA, Neoplasm RNA, Nuclear RNA, Heterogeneous Nuclear RNA, ... Untranslated Regions D13.444.735.790.878.885 5' Untranslated Regions D13.444.735.790.878.942 Regulatory Sequences, ...
  4. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Untranslated Regions D13.444.735.544.875.885...........................................5' Untranslated Regions D13.444.735.615...........................................RNA, Neoplasm D13.444. ...
  5. 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/ ...
  6. 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 ...
  7. 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. ...
  8. GenBank release 245.0 - NCBI Insights 
    https://ncbiinsights.ncbi.nlm.nih.gov/2021/08/26/genbank-release-245
    ... open reading frame that is found in the 5′ untranslated region of an mRNA and plays a role in ...
  9. 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 ...
  10. 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 ...
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