Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion> ?p ?o ?g. }
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- NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion type Assertion NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_head.
- NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion description "[Mutations in this gene are causing the highly pleiotropic disease cartilage-hair hypoplasia (CHH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_provenance.
- NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion evidence source_evidence_literature NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_provenance.
- NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion SIO_000772 21956908 NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_provenance.
- NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion wasDerivedFrom befree-20150227 NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_provenance.
- NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_assertion wasGeneratedBy ECO_0000203 NP672358.RA7L780YbNyDvYix96CjjVYZanfHeAjbCDGbVEVN3lsg8130_provenance.