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- source_evidence_literature type ECO_0000212 NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_assertion description "[Here we report a SCID associated with microcephaly caused by compound heterozygous hypomorphic mutations in Lig4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_assertion evidence source_evidence_literature NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_assertion SIO_000772 16358361 NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_assertion wasDerivedFrom befree-20140225 NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_assertion wasGeneratedBy ECO_0000203 NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP565721.RAAGv1V1NwLXvVXnXnTElJ41gJFxb4r6I2B-jo4VnTUCE130_provenance.