Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion> ?p ?o ?g. }
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- NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion type Assertion NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_head.
- NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion description "[We have identified a point mutation in one alpha 1(I) collagen allele (COL1A1) of a child with the type IV osteogenesis imperfecta phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_provenance.
- NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion evidence source_evidence_literature NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_provenance.
- NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion SIO_000772 2745420 NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_provenance.
- NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion wasDerivedFrom befree-20150227 NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_provenance.
- NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_assertion wasGeneratedBy ECO_0000203 NP319106.RADKcpwg6efEGYPMmg4ClXLsOloujTn_pOiQf3qoQR3FU130_provenance.