Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion> ?p ?o ?g. }
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- NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion type Assertion NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_head.
- NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion wasGeneratedBy ECO_0000203 NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_provenance.
- NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion wasDerivedFrom befree-2016 NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_provenance.
- NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion SIO_000772 21667357 NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_provenance.
- NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion evidence source_evidence_literature NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_provenance.
- NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_assertion description "[Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP901445.RASuZ54SeKcX1iSAo3yEJbqL58BiqoFuTHYTTvDtoDhps130_provenance.