Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion> ?p ?o ?g. }
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- NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion type Assertion NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_head.
- NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion description "[Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance.
- NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion evidence source_evidence_literature NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance.
- NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion SIO_000772 17719747 NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance.
- NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion wasDerivedFrom lhgdn-20090331 NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance.
- NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_assertion wasGeneratedBy ECO_0000203 NP150377.RA5sro6b7Qh_A74k_7DfbTAVYcVGwKoSkzFrZThf13GA8130_provenance.