TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
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| Title: | TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders. |
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| Authors: | de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. kelvin.deandrade@nih.gov., Pinto EM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Zhao T; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Zeigler LP; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Haley JS; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Florez-Vargas O; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Phillips AH; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Kriwacki RW; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Akinniyi SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Cohen SB; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Emerson MR; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Smelser DT; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., Urban GM; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., Fridman C; Departamento de Medicina Legal, Bioética, Medicina do Trabalho e Medicina Física e Reabilitação, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Zambetti GP; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Bryan TM; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Carey DJ; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., Garcia CK; Division of Pulmonary and Critical Care Medicine, Columbia University, New York, NY, USA., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Jun 02; Vol. 10 (1), pp. 46. Date of Electronic Publication: 2025 Jun 02. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-025-00501-8 |
