Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion> ?p ?o ?g. }
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- NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion type Assertion NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_head.
- NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion description "[Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_provenance.
- NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion evidence source_evidence_literature NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_provenance.
- NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion SIO_000772 25187577 NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_provenance.
- NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion wasDerivedFrom befree-2016 NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_provenance.
- NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_assertion wasGeneratedBy ECO_0000203 NP1216702.RAI69g-oyfO7cw8jdV4KGk9lSrmVePkkUTGXylelCnSww130_provenance.