Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion> ?p ?o ?g. }
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- NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion type Assertion NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_head.
- NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion description "[A novel Leu253Arg mutation of the RP2 gene was found to cosegregate with retinal degeneration in two affected males and two carriers in female heterozygote in a Japanese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_provenance.
- NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion evidence source_evidence_literature NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_provenance.
- NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion SIO_000772 10634633 NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_provenance.
- NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion wasDerivedFrom befree-20150227 NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_provenance.
- NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_assertion wasGeneratedBy ECO_0000203 NP988539.RAvr0ykMqXSTKMdw0A96t8UkEP2dOzgGrPB9ofJqvcdGQ130_provenance.