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12 results
  1. 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 ...
  2. 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 ...
  3. 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 ...
  4. 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 ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. 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 ...
  9. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... B9 domain-containing protein 2 B9D2 B9D2 C2CD3 11q13 ​.4 C2 domain-containing protein 3 C2CD3 C2CD3 CC2D2A ...