http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#head http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://www.nanopub.org/nschema#hasAssertion http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#assertion http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://www.nanopub.org/nschema#hasProvenance http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#provenance http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://www.nanopub.org/nschema#hasPublicationInfo http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#publicationInfo http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#assertion http://identifiers.org/ensembl/ENSG00000169359 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/ENSG00000169359 http://www.w3.org/2000/01/rdf-schema#label SLC33A1 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#association http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ensembl/ENSG00000169359 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#association http://semanticscience.org/resource/SIO_000628 http://identifiers.org/omim/614482 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#association http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_000983 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#provenance http://identifiers.org/pubmed/22243965 http://purl.org/dc/terms/title Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#assertion http://semanticscience.org/resource/SIO_000253 http://identifiers.org/pubmed/22243965 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#publicationInfo http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#activity http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.w3.org/ns/prov#Activity http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#activity http://www.w3.org/ns/prov#atLocation https://www.wikidata.org/entity/Q1137652 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://purl.org/dc/terms/created 2018-04-05T10:17:11.353+02:00 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://purl.org/dc/terms/rights http://creativecommons.org/publicdomain/zero/1.0/ http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-6048-1457 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7770-620X http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://purl.org/pav/createdBy http://orcid.org/0000-0001-7542-0286 http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI http://www.w3.org/ns/prov#wasGeneratedBy http://purl.org/np/RAHS_v3ibQBUcLqOIjAKHs7nVrYVgC0T9nhJebc7S4uSI#activity