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8 results
  1. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1397
    ... binding protein 2 DDB2 database DDB2 DDB2 ERCC1 19q13 ​.32 DNA excision repair protein ERCC-1 ERCC1 database ERCC1 ERCC1 ERCC2 19q13 ​.32 General transcription and DNA repair factor IIH helicase ...
  2. KPTN-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK605495
    ... window Gene Chromosome Locus Protein HGMD ClinVar KPTN 19q13 ​.32 KICSTOR complex protein kaptin KPTN KPTN Data are ...
  3. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... 3 complex subunit delta-1 AP3D1 AP3D1 BLOC1S3 19q13 ​.32 Biogenesis of lysosome-related organelles complex 1 subunit ...
  4. Branchiootorenal Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1380
    ... Homeobox protein SIX1 SIX1 database SIX1 SIX1 SIX5 19q13 ​.32 Homeobox protein SIX5 SIX5 database SIX5 SIX5 Data ...
  5. Costeff Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1473
    ... Locus Protein Locus-Specific Databases HGMD ClinVar OPA3 19q13 ​.32 Optic atrophy 3 protein OPA3 @ LOVD OPA3 OPA3 ...
  6. Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1289
    ... CALM1 CALM1 CALM2 2p21 Calmodulin CALM2 CALM2 CALM3 19q13 ​.32 Calmodulin-3 CALM3 CALM3 CASQ2 1p13 ​.1 Calsequestrin- ...
  7. Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1165
    ... Locus Protein Locus-Specific Databases HGMD ClinVar DMPK 19q13 ​.32 Myotonin-protein kinase DMPK database DMPK DMPK Data ...
  8. Three M Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1481
    ... Locus Protein Locus-Specific Databases HGMD ClinVar CCDC8 19q13 ​.32 Coiled-coil domain-containing protein 8 CCDC8 CCDC8 ...