Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion> ?p ?o ?g. }
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- NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion type Assertion NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_head.
- NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion wasGeneratedBy ECO_0000203 NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_provenance.
- NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion wasDerivedFrom befree-20150227 NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_provenance.
- NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion SIO_000772 14584882 NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_provenance.
- NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion evidence source_evidence_literature NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_provenance.
- NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_assertion description "[In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP315448.RAmk3XDkiABD5nY52Fk3zpy50UmBP9Kr7phrbtiHY81QY130_provenance.