Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion> ?p ?o ?g. }
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- NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion type Assertion NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_head.
- NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion description "[EXT1 and EXT2 are the two genes known to harbor heterozygous loss-of-function mutations that account for the vast majority of the primary genetic component of HME.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_provenance.
- NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion evidence source_evidence_literature NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_provenance.
- NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion SIO_000772 25498973 NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_provenance.
- NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion wasDerivedFrom befree-2016 NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_provenance.
- NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_assertion wasGeneratedBy ECO_0000203 NP1247123.RAnXst29K9VqJAVAKf5r3tZvFG9hbNmbNZ6QVJYeHVFrI130_provenance.