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9 results
  1. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265 (5181): 2088-90, 1994. [ PubMed : 8091231 ] ...
  2. ARSACS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1255
    ... with ARSACS involving a large deletion on chromosome 13q12.12. Of note in this individual, the brain ... Locus Protein Locus-Specific Databases HGMD ClinVar SACS 13q12 ​.12 Sacsin SACS database SACS SACS Data are ...
  3. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... of probes in the 5q32-q33.1 or 13q12.2 regions. 7. Sanchez et al [2020] reported ... III subunit RPAC1 POLR1C @ LOVD POLR1C POLR1C POLR1D 13q12 ​.2 DNA-directed RNA polymerases I and III ...
  4. Peters Plus Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1464
    ... Locus Protein Locus-Specific Databases HGMD ClinVar B3GLCT 13q12 ​.3 Beta-1,3-glucosyltransferase Beta 1,3- ... EH, Shaikh TH. A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. ...
  5. Hidrotic Ectodermal Dysplasia 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1200
    ... Locus Protein Locus-Specific Databases HGMD ClinVar GJB6 13q12 ​.11 Gap junction beta-6 protein Hereditary Hearing ... congenital atrichia. J Invest Dermatol. 2004; 122 :1108–13. [ PubMed : 15140211 ] Kibar Z, Der Kaloustian VM, Brais ...
  6. Nonsyndromic Hearing Loss and Deafness, DFNB1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1272
    ... Protein Locus-Specific Databases HGMD ClinVar DFNB1 GJB2 13q12 ​.11 Gap junction beta-2 protein Hereditary Hearing ...