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5 results

  1. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... 11p15 ​.5 Unknown H19 @ LOVD H19 H19 HMGA2 12q14 ​.3 High mobility group protein HMGI-C HMGA2 database ... Variants Involving HMGA2 Deletions of the HMGA2 locus (12q14.3) have been reported in several individuals with SRS, ...
  2. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... Locus Protein Locus-Specific Databases HGMD ClinVar GNS 12q14 ​.3 N-acetylglucosamine-6-sulfatase GNS database GNS GNS ...