Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion> ?p ?o ?g. }
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- NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion type Assertion NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_head.
- 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.
- NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion evidence source_evidence_literature NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_provenance.
- NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion SIO_000772 21271657 NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_provenance.
- NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion wasDerivedFrom befree-20150227 NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_provenance.
- NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_assertion wasGeneratedBy ECO_0000203 NP860533.RA4epfoM05vnpUw4s-DgQjKyTt79RBKZ2Vf1fNHSYUsm4130_provenance.