Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion> ?p ?o ?g. }
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- NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion type Assertion NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_head.
- NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion wasGeneratedBy ECO_0000203 NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_provenance.
- NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion wasDerivedFrom befree-20140225 NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_provenance.
- NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion SIO_000772 16237566 NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_provenance.
- NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion evidence source_evidence_literature NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_provenance.
- NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_assertion description "[Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and facial dysmorphism is caused by defects in the SMARCAL1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP633513.RACNBxD6309xZCg3jvnHCIUPvGl7rN1kcVOHhDIpb-3cM130_provenance.