Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion type Assertion NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_head.
- NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion description "[Hereditary multiple exostoses (HME), an autosomal skeletal disorder characterized by cartilage-capped excrescences, has been ascribed to mutations in EXT 1 and EXT 2, two tumor suppressor-related genes encoding glycosyltransferases involved in the heparan sulfate proteoglycan (HSPG) biosynthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_provenance.
- NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion evidence source_evidence_literature NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_provenance.
- NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion SIO_000772 10934647 NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_provenance.
- NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion wasDerivedFrom befree-20150227 NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_provenance.
- NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_assertion wasGeneratedBy ECO_0000203 NP469892.RA3xi9IM9auLQtG1QTM_saOXTUffCRrUz756mV-mOs-g8130_provenance.