Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion> ?p ?o ?g. }
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- NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion type Assertion NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_head.
- NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion description "[OCA3 was thought to be restricted to black populations, where it was clinically described as rufous or brown albinism, until the recent report of a homozygous TYRP1 mutation in Caucasian patients from a consanguineous Pakistani family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_provenance.
- NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion evidence source_evidence_literature NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_provenance.
- NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion SIO_000772 16704458 NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_provenance.
- NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion wasDerivedFrom befree-20140225 NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_provenance.
- NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_assertion wasGeneratedBy ECO_0000203 NP750251.RA_OK9Zh3ioc17q-CqKPS276UevQreFNbFYcksoxoh3nc130_provenance.