Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion> ?p ?o ?g. }
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- NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion type Assertion NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_head.
- NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion description "[Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_provenance.
- NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion evidence source_evidence_curated NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_provenance.
- NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion SIO_000772 10745044 NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_provenance.
- NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion wasDerivedFrom uniprot-2016 NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_provenance.
- NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_assertion wasGeneratedBy ECO_0000218 NP739.RAe9M4i0FOvDW6eBzPtpvWEocsvOmI8-Ga-4JlUn0hhsA130_provenance.