Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_assertion wasGeneratedBy ECO_0000203 NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_assertion wasDerivedFrom befree-2016 NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_assertion SIO_000772 20806075 NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_assertion evidence source_evidence_literature NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.
- NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_assertion description "[Blood samples were collected from 23 probands and 13 affected family members from 23 genetically unrelated Indian families (22 diagnosed as OCA and 1 diagnosed as OA) and analyzed by bidirectional DNA sequencing of the classic OCA genes--tyrosinase (TYR, or oculocutaneous albinism IA), pink eyed dilution (P; or oculocutaneous albinism II (OCA2]), tyrosinase-related protein 1 (TYRP1), solute carrier family 45, member 2 (SLC45A2; or membrane-associated transporter protein [MATP])--and the OA1 gene, G protein-coupled receptor 143 (GPR143).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP836046.RA02aHeKAO8mCrhzeN3Municymazb8yWwgR1ygQl1hR5Y130_provenance.