Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion type Assertion NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_head.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion description "[This is the first pathogenic missense mutation reported in CDH3 and the second mutation found to underlie hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion evidence source_evidence_literature NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion SIO_000772 12445216 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion wasDerivedFrom befree-20140225 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.
- NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_assertion wasGeneratedBy ECO_0000203 NP780984.RAQB5rnWe4EZKWHAqnqMh_T8wdp3vMe01k9Xa8xilcZKc130_provenance.