Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_assertion> ?p ?o ?g. }
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- NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_assertion type Assertion NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_head.
- NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_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." NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_provenance.
- NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_assertion evidence source_evidence_literature NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_provenance.
- NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_assertion SIO_000772 10934647 NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_provenance.
- NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_assertion wasDerivedFrom befree-2016 NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_provenance.
- NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_assertion wasGeneratedBy ECO_0000203 NP291458.RAurLJSuWkHHeX3f5c-GvHAYe74D64x-rjYOGjd1QKCv0130_provenance.