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  1. NLM Digital Collections - The Molecular Genetics of Cellular Oncogenes 
    Publication: Annual Reviews, Inc., 1984
    resource.nlm.nih.gov/101584926X272
    ... human cell line SW480, the same twelfth codon mutation in c-Ki-ras2 is present in two.alleles distinguished by an apparent polymorphism in a non-coding region (29). Furthermore, mutant alleles are sometimes amplified [e. ...
  2. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome ... MS (2004-present) Ethylin Wang Jabs, MD (2011-present) Revision History ...
  3. Genetics of Colorectal Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK126744
    ... associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J ... G, Bell I, Crawley S, et al.: BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but ...
  4. APC-Associated Polyposis Conditions - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1345
    ... associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J ...
  5. Langerhans Cell Histiocytosis Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65799
    ... al.: Mutually exclusive extracellular signal-regulated kinase pathway mutations are present in different stages of multi-focal pulmonary Langerhans ...
  6. SLC6A3-Related Dopamine Transporter Deficiency Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK442323
    ... Pathogenic variants have been identified throughout the entire coding region and flanking splice sites. No mutation hot spots or recurrent/common pathogenic variants have ...
  7. pdf2012 NLM Training Conference 
    https://www.nlm.nih.gov/.../TC2012TrainingConferenceBook.pdf
    ... K mutation in the protein kinase BRAF. This mutation is present in ~50% of cutaneous melanomas, and drugs have been developed to inhibit this mutant kinase. There is a great interest in ... have BRAF mutations, and melanomas with BRAF mutations tend to develop ...
  8. SDHC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sdhc
    ... DNA building blocks in the SDHC gene. These mutations are present in all of the body's cells and are known as germline mutations. The germline mutations prevent the production of a ...
  9. Hypermobile Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1279
    ... 2010 (cd) Revision: sequence analysis of the entire coding region available on a limited basis for TNXB mutations 27 April 2010 (me) Comprehensive update posted live ...
  10. Childhood Adrenocortical Carcinoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK549129
    ... of other nonadrenal cancers (Li-Fraumeni syndrome). Germline mutations usually occur within the region coding for the TP53 DNA-binding domain (exons 5 ... heterozygosity with selection against wild-type TP53 was present in virtually all ... mutations. ATRX genomic alterations (primarily structural variants) were present ...
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