Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion> ?p ?o ?g. }
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- NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion type Assertion NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_head.
- NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion wasGeneratedBy ECO_0000203 NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_provenance.
- NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion wasDerivedFrom befree-2016 NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_provenance.
- NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion SIO_000772 24647030 NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_provenance.
- NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion evidence source_evidence_literature NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_provenance.
- NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_assertion description "[We report a patient with a SMARD phenotype due to a mutation in LAS1L, a gene important in coordinating processing of the 45S pre-rRNA and maturation of the large 60S ribosomal subunit.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1165457.RAIwKx_RO9AgWRD5doxx-K3OQEGBf1bYgAJBSwp3afVVc130_provenance.