Matches in Nanopublications for { ?s ?p "[Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and regulation of homologous recombination, in an individual with familial HHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_assertion description "[Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and regulation of homologous recombination, in an individual with familial HHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.