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  1. GM2 activator deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency
    ... Morales CR, Mitchell GA, Pshezhetsky AV. Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > ...
  2. Web Interactive Presentation of EPC Reports: A Foray Into Interactive Reports - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546089
    ... PMC PopSet Protein Protein Clusters PubChem BioAssay PubChem Compound PubChem ... > Web Interactive Presentation of EPC Reports: A Foray Into Interactive Reports ...
  3. Genetics of Colorectal Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK126744
    ... 100 to 999 adenomas.[ 114 ] This broad clinical presentation results from the MUTYH gene's ability to cause disease in its homozygous or compound heterozygous forms. Based on studies from multiple FAP ...
  4. Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100664
    ... LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet. A. 2011; 155A :1096–101. [ PubMed : 21480479 ] Singh A, Tekin M, Falcone M, Kapoor S. Delayed presentation of rickets in a child with labyrinthine aplasia, ...
  5. Hypochromic microcytic anemia with iron overload: MedlinePlus Genetics 
    https://medlineplus.gov/...omic-microcytic-anemia-with-iron-overload
    ... and hepatic iron overload in a child with compound heterozygous mutations in DMT1 ... DMT1: clinical presentation and treatment. Semin Hematol. 2009 Oct;46(4): ...
  6. Results - Presentation of Future Research Needs - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK95289
    ... PMC PopSet Protein Protein Clusters PubChem BioAssay PubChem ... National Institutes of Health. Kane RL, Guise JM, Hartman K, et al. Presentation of Future Research Needs [Internet]. Rockville (MD): Agency ...
  7. Methods - Presentation of Future Research Needs - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK95286
    ... PMC PopSet Protein Protein Clusters PubChem BioAssay PubChem ... National Institutes of Health. Kane RL, Guise JM, Hartman K, et al. Presentation of Future Research Needs [Internet]. Rockville (MD): Agency ...
  8. Results - Web Interactive Presentation of EPC Reports: A Foray Into Interactive Reports - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546094
    ... PMC PopSet Protein Protein Clusters PubChem BioAssay PubChem ... Institutes of Health. Trikalinos TA, Adam GP, Jap J, et al. Web Interactive Presentation of EPC Reports: A Foray Into Interactive Reports [ ...
  9. Background - Web Interactive Presentation of EPC Reports: A Foray Into Interactive Reports - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546091
    ... PMC PopSet Protein Protein Clusters PubChem BioAssay PubChem ... Institutes of Health. Trikalinos TA, Adam GP, Jap J, et al. Web Interactive Presentation of EPC Reports: A Foray Into Interactive Reports [ ...
  10. Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... den Brink et al [2003a] who were both compound heterozygous for pathogenic ... clinical presentation [ Motley et al 2002 ]. In patient 1, the ...
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