Matches in Nanopublications for { ?s ?p "[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_assertion description "[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP897616.RAuv8vrF6n9968DV7gYsZhYgohcSR5c2a3LUyl2Jdr-u0130_provenance.
- NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion description "[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance.
- NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion description "[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_provenance.