Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

2013/01/17 by Bari J. Ballew, Meredith Yeager, Kevin Jacobs +7
Biochemistry, Genetics and Molecular Biology · Medicine · #DNA Repair Mechanisms #Mitochondrial Function and Pathology #Telomeres, Telomerase, and Senescence

paper · doi:10.1007/s00439-013-1265-8

openalex publication_date 2013/01/17 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Citations

• TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
• A framework for variation discovery and genotyping using next-generation DNA sequencing data

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