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12 results

  1. INPPL1-Related Opsismodysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK615431
    ... Locus Protein Locus-Specific Databases HGMD ClinVar INPPL1 11q13 ​.4 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 ...
  2. FOLR1-Related Cerebral Folate Transport Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK599286
    ... Locus Protein Locus-Specific Databases HGMD ClinVar FOLR1 11q13 ​.4 Folate receptor alpha FOLR1 database FOLR1 FOLR1 Data ...
  3. Congenital NAD Deficiency Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK593504
    ... 2q22 ​.2 Kynureninase KYNU database KYNU KYNU NADSYN1 11q13 ​.4 Glutamine-dependent NAD(+) synthetase NADSYN1 NADSYN1 Data are ...
  4. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... window Gene Chromosome Locus Protein HGMD ClinVar CLPB 11q13 ​.4 Mitochondrial disaggregase CLPB CLPB Data are compiled from ...
  5. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... 5 , 7 ] the CCND1 -harboring region at chromosome 11q13,[ 4 ] and the PDGFRA -, KIT -, and KDR -harboring regions ...
  6. Osteosarcoma and Undifferentiated Pleomorphic Sarcoma of Bone Treatment (PDQ®) - PDQ Cancer Information Summaries - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK65736
    ... 5 , 7 ] the CCND1 -harboring region at chromosome 11q13,[ 4 ] and the PDGFRA -, KIT -, and KDR -harboring regions ...
  7. Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK65870
    ... the MEN1 tumor suppressor gene located on chromosome 11q13.[ 4 ] When part of the MEN1 syndrome, there may ...
  8. Smith-Lemli-Opitz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1143
    ... Locus Protein Locus-Specific Databases HGMD ClinVar DHCR7 11q13 ​.4 7-dehydrocholesterol reductase DHCR7 database DHCR7 DHCR7 Data ...
  9. Brugada Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1517
    ... KCNE2 database KCNE2 @ ZAC-GGM KCNE2 KCNE2 KCNE3 11q13 ​.4 Potassium voltage-gated channel subfamily E member 3 ...