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- source_evidence_literature type ECO_0000212 NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_assertion description "[We propose that these mutations are the molecular cause of the disease observed in the previously described SCKL2 family and in an additional unrelated family diagnosed with a similar form of congenital microcephaly termed Jawad syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_assertion evidence source_evidence_literature NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_assertion SIO_000772 21998596 NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_assertion wasDerivedFrom befree-20150227 NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_assertion wasGeneratedBy ECO_0000203 NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP667558.RASIeT_gQNkfBKSXSJvdRVvDAQb-iame-xe6z6BK45HYQ130_provenance.