Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_assertion> ?p ?o ?g. }
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- NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_assertion type Assertion NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_head.
- NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_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." NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_provenance.
- NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_assertion evidence source_evidence_literature NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_provenance.
- NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_assertion SIO_000772 12445216 NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_provenance.
- NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_assertion wasDerivedFrom befree-20140225 NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_provenance.
- NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_assertion wasGeneratedBy ECO_0000203 NP211237.RAUbQUQjEjNZJI7q8Cu7nayG4p4GIoI5JgJLH6tezobyg130_provenance.