Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion> ?p ?o ?g. }
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- NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion type Assertion NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_head.
- NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion description "[BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Bj�rnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_provenance.
- NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion evidence source_evidence_literature NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_provenance.
- NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion SIO_000772 17314340 NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_provenance.
- NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion wasDerivedFrom befree-2016 NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_provenance.
- NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_assertion wasGeneratedBy ECO_0000203 NP595179.RAuvedFpL8e9PNry7bhxnpOGvYtAnNQh0CYHzxjn_Y9uU130_provenance.