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- source_evidence_literature type ECO_0000212 NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_assertion description "[The wide variability of ocular phenotype regardless of the presence or absence of PAX6 mutations calls for a further appreciation of the complexity in the molecular diagnosis of aniridia and suggests that this ocular malformation may be better regarded as a group of heterogeneous disorders, rather than a single disease entity, associated with mutations in PAX6 and/or other genes located elsewhere in the human genome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_assertion evidence source_evidence_literature NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_assertion SIO_000772 22361317 NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_assertion wasDerivedFrom befree-20150227 NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_assertion wasGeneratedBy ECO_0000203 NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP610283.RAY9yliyNaVrjJ4ej9i-doF-nqs-kLXcIa8MY-BCuu6f4130_provenance.