Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion> ?p ?o ?g. }
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- NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion type Assertion NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_head.
- NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion wasGeneratedBy ECO_0000203 NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_provenance.
- NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion wasDerivedFrom befree-2016 NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_provenance.
- NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion SIO_000772 8068076 NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_provenance.
- NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion evidence source_evidence_literature NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_provenance.
- NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_assertion description "[A new missense mutation in the phenylalanine hydroxylase (PAH) gene was identified in 20/30 members of the families of 10 unrelated Japanese phenylketonuria (PKU) patients from Kyushu island.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1331229.RAD7CffQZHH7ifS3WnOOeLVYoA6x6BpmCSYfUG1sN7pVU130_provenance.