Matches in Nanopublications for { ?s ?p "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP882854.RAl1rZEWd8nCD8u-an5NVXGdJ3RHc7kfObOeXHl9uKWwI130_provenance.
- NP701268.RAOVohzonaw_uAWL-lwQxBJ0qLaJFWbrD-gByZLFeWIbM130_assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP701268.RAOVohzonaw_uAWL-lwQxBJ0qLaJFWbrD-gByZLFeWIbM130_provenance.