Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion> ?p ?o ?g. }
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- NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion type Assertion NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_head.
- NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion description "[Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_provenance.
- NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion evidence source_evidence_literature NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_provenance.
- NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion SIO_000772 26172957 NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_provenance.
- NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion wasDerivedFrom befree-2016 NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_provenance.
- NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_assertion wasGeneratedBy ECO_0000203 NP1290070.RAp_iaRuiSba1JfWi9UCtOnTSUtGhS0x2qMe0rDawB_OE130_provenance.