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http://purl.uniprot.org/SHA-384/A58E9FBAD1A38FD4873FE5907EA7A5DC5D25525F2ABB08335DD071540A2143C80A7253E589371EA4185A6CBF78FF764Chttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A58E9FBAD1A38FD4873FE5907EA7A5DC5D25525F2ABB08335DD071540A2143C80A7253E589371EA4185A6CBF78FF764Chttp://www.w3.org/2000/01/rdf-schema#comment"3 consanguineous siblings with syndromic congenital myelofibrosis had a variant (NM_022340.3:c.289G>C; NP_001289307.1:p.Gly97Arg) in RBSN. All 3 were homozygous; the parents and a cousin were heterozygous. RBSN loss of function causes a severe syndromic form of congenital myelofibrosis confirming that rabenosyn-5 plays a vital role in human development and hematopoiesis."xsd:string
http://purl.uniprot.org/uniprot/#_36B58AFCFCE4A279B665A064E1D807C07C21500318D202DF4BFFDAFA97DAD632360EAF3AD262CF86A136475DEA2E0DEAhttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/A58E9FBAD1A38FD4873FE5907EA7A5DC5D25525F2ABB08335DD071540A2143C80A7253E589371EA4185A6CBF78FF764C
http://purl.uniprot.org/uniprot/Q9H1K0http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/A58E9FBAD1A38FD4873FE5907EA7A5DC5D25525F2ABB08335DD071540A2143C80A7253E589371EA4185A6CBF78FF764C
http://purl.uniprot.org/uniprot/#_Q9H1K0-mappedCitation-29784638http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/A58E9FBAD1A38FD4873FE5907EA7A5DC5D25525F2ABB08335DD071540A2143C80A7253E589371EA4185A6CBF78FF764C