Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion type Assertion NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_head.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_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." NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion evidence source_evidence_literature NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion SIO_000772 17478638 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion wasDerivedFrom befree-20140225 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion wasGeneratedBy ECO_0000203 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.