Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion> ?p ?o ?g. }
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- NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion type Assertion NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_head.
- NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion wasGeneratedBy ECO_0000203 NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_provenance.
- NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion wasDerivedFrom befree-20140225 NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_provenance.
- NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion SIO_000772 21671392 NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_provenance.
- NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion evidence source_evidence_literature NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_provenance.
- NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_assertion description "[A family with autosomal recessive Stickler syndrome was previously described and found to have a homozygous loss-of-function mutation in COL9A1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604331.RAoROzggWuht8gXJ5wXMRLp9vX-aJTFV3wrVOI6pP2rR8130_provenance.