Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion> ?p ?o ?g. }
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- NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion type Assertion NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_head.
- NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion wasGeneratedBy ECO_0000203 NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_provenance.
- NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion wasDerivedFrom befree-20140225 NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_provenance.
- NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion SIO_000772 16574104 NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_provenance.
- NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion evidence source_evidence_literature NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_provenance.
- NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_assertion description "[Seipin is associated with the heterogeneous genetic disease BSCL2, and mutations in an N-glycosylation motif links the protein to two other disorders, autosomal-dominant distal hereditary motor neuropathy type V and Silver syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP667337.RAYYUI1nska5b7aNlTd2S6btmHonMvqIbdrXXyZdQpBl0130_provenance.