http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#head
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://www.nanopub.org/nschema#hasAssertion
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#assertion
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://www.nanopub.org/nschema#hasProvenance
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#provenance
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://www.nanopub.org/nschema#hasPublicationInfo
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#publicationInfo
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#assertion
http://identifiers.org/ensembl/ENSG00000132549
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://identifiers.org/ensembl/ENSG00000132549
http://www.w3.org/2000/01/rdf-schema#label
VPS13B
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#association
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ensembl/ENSG00000132549
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#association
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/omim/216550
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#association
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_000983
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#provenance
http://identifiers.org/pubmed/12730828
http://purl.org/dc/terms/title
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#assertion
http://semanticscience.org/resource/SIO_000253
http://identifiers.org/pubmed/12730828
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#publicationInfo
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#activity
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.w3.org/ns/prov#Activity
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#activity
http://www.w3.org/ns/prov#atLocation
https://www.wikidata.org/entity/Q1137652
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://purl.org/dc/terms/created
2018-04-05T10:17:11.353+02:00
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://purl.org/dc/terms/rights
http://creativecommons.org/publicdomain/zero/1.0/
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-6048-1457
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7770-620X
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://purl.org/pav/createdBy
http://orcid.org/0000-0001-7542-0286
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.org/np/RAmKQox3Cb7pCNO3ZW714qxj2Kg9XPCBpha8hakd5IIJM#activity