Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion> ?p ?o ?g. }
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- NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion type Assertion NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_head.
- NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion description "[Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_provenance.
- NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion evidence source_evidence_literature NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_provenance.
- NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion SIO_000772 15017103 NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_provenance.
- NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion wasDerivedFrom gad-20150221 NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_provenance.
- NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_assertion wasGeneratedBy ECO_0000203 NP61498.RA1cv84rZMJWV7osvHYm906zy-dgkEFRwR-CUhoGU9Nqw130_provenance.