Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion> ?p ?o ?g. }
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- NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion type Assertion NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_head.
- NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion description "[One patient had compound heterozygous mutations in RDH5 and suffered from FAP with mild maculopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_provenance.
- NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion evidence source_evidence_literature NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_provenance.
- NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion SIO_000772 22559933 NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_provenance.
- NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion wasDerivedFrom befree-20140225 NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_provenance.
- NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_assertion wasGeneratedBy ECO_0000203 NP686144.RAHJ94MjTCFxnZSleG3NUyxXl9Df8Omwie4JpXjwbIlpQ130_provenance.