Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion> ?p ?o ?g. }
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- NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion type Assertion NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_head.
- NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion wasGeneratedBy ECO_0000203 NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_provenance.
- NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion wasDerivedFrom befree-20140225 NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_provenance.
- NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion SIO_000772 19876931 NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_provenance.
- NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion evidence source_evidence_literature NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_provenance.
- NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_assertion description "[At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP709873.RAWbpPgLAwnmyRZbe4fF-tW8Kb3VLixrV77LB3xjWuuEU130_provenance.