Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_assertion description "[Unlike mutations that lead to haploinsufficiency for GDF5 and produce brachydactyly C, the protein encoded by the multiple-synostosis-syndrome allele was secreted as a mature GDF5 dimer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_assertion evidence source_evidence_literature NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_assertion SIO_000772 16532400 NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_assertion wasDerivedFrom befree-2016 NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_assertion wasGeneratedBy ECO_0000203 NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.
- befree-2016 importedOn "2016-02-19" NP539787.RAE3MO4R5dO8WnggBdLWKehbT7wEzYS6fBMs_gMv73yyA130_provenance.