Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion> ?p ?o ?g. }
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- NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion type Assertion NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_head.
- NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion description "[Two missense mutations in ST14 were recently described in patients with a phenotype of ichthyosis and hypotrichosis, indicating diverse activities of matriptase in the epidermis and hair follicles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_provenance.
- NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion evidence source_evidence_literature NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_provenance.
- NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion SIO_000772 18843291 NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_provenance.
- NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion wasDerivedFrom befree-20140225 NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_provenance.
- NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_assertion wasGeneratedBy ECO_0000203 NP934372.RAa5qXP5IutpH_Yk4cScBwpII-dQ-bFgeSH25jbu2K024130_provenance.