Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion> ?p ?o ?g. }
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- NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion type Assertion NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_head.
- NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion description "[Shwachman-Diamond syndrome (SDS; OMIM 260400), an inherited bone marrow failure syndrome, is caused by mutations in both alleles of the SBDS gene, which encodes a protein of unknown function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_provenance.
- NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion evidence source_evidence_literature NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_provenance.
- NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion SIO_000772 17478638 NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_provenance.
- NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion wasDerivedFrom befree-20140225 NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_provenance.
- NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_assertion wasGeneratedBy ECO_0000203 NP751248.RAYrGVqs2s6OwkCg_tpJY4qc-QCDV0riMN8HlUfTpxUeo130_provenance.