Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion> ?p ?o ?g. }
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- NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion type Assertion NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_head.
- NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion description "[Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance.
- NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion evidence source_evidence_literature NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance.
- NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion SIO_000772 22315192 NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance.
- NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion wasDerivedFrom befree-20140225 NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance.
- NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion wasGeneratedBy ECO_0000203 NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance.