Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion> ?p ?o ?g. }
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- NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion type Assertion NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_head.
- NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion description "[Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_provenance.
- NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion evidence source_evidence_literature NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_provenance.
- NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion SIO_000772 23910462 NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_provenance.
- NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion wasDerivedFrom befree-20140225 NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_provenance.
- NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_assertion wasGeneratedBy ECO_0000203 NP359190.RAr9vTduXZUlAv1XhaaBxRL_BqA4Z3s121cjL6msYMLfk130_provenance.