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- source_evidence_literature type ECO_0000212 NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_assertion wasGeneratedBy ECO_0000203 NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_assertion wasDerivedFrom befree-20150227 NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_assertion SIO_000772 20806075 NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_assertion evidence source_evidence_literature NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.
- NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_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." NP601247.RAlwOLd_aAxaZn3vqRU03e1p2Erus-AQY-H7so3YZy6x0130_provenance.