Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_assertion description "[A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_assertion evidence source_evidence_curated NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_assertion SIO_000772 10721678 NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_assertion wasDerivedFrom uniprot-2016 NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_assertion wasGeneratedBy ECO_0000218 NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP692.RATJ3eX13nY1ZT6C5VZ7aRKdY2nSjgKaTwvGT9hFG18cY130_provenance.