Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion> ?p ?o ?g. }
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- NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion type Assertion NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_head.
- NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion description "[A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_provenance.
- NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion evidence source_evidence_literature NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_provenance.
- NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion SIO_000772 19076794 NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_provenance.
- NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion wasDerivedFrom befree-20140225 NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_provenance.
- NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_assertion wasGeneratedBy ECO_0000203 NP650432.RAQUtej-7YCLrnEJjHmVabieUxJZkF2X-qzRh9-KRRwpg130_provenance.