Matches in Nanopublications for { ?s ?p "[We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_assertion description "[We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP887104.RA_nuTRGcEAc4XPRFoe30Qw3V3jFizqoox2-osbgxxHVk130_provenance.
- NP285283.RATsSkO-y5CwcPDhOMNmL7IuWrJcaHDjkPFdQxhqqP5Y8130_assertion description "[We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP285283.RATsSkO-y5CwcPDhOMNmL7IuWrJcaHDjkPFdQxhqqP5Y8130_provenance.
- NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_assertion description "[We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP898196.RAjZz8VNngdUsJ7ujl5XTLxW8BNy4yPdGilDPGKEoq50k130_provenance.