Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion> ?p ?o ?g. }
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- NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion type Assertion NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_head.
- NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion description "[A heterozygous de novo G to A point mutation in intron 8 at the +5 position of the splice donor site of the gene for the pro alpha 1(I) chain of type I procollagen, COL1A1, was defined in a patient with type IV osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_provenance.
- NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion evidence source_evidence_literature NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_provenance.
- NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion SIO_000772 7945197 NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_provenance.
- NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion wasDerivedFrom befree-20140225 NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_provenance.
- NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_assertion wasGeneratedBy ECO_0000203 NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_provenance.