Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion description "[We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene (RMRP), and identified four novel mutations in two patients with typical and atypical cartilage-hair hypoplasia (CHH), a form of MCD characterized by extra-skeletal manifestations including hypoplastic hair and defective immunity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion evidence source_evidence_literature NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion SIO_000772 14608646 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion wasDerivedFrom befree-20150227 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_assertion wasGeneratedBy ECO_0000203 NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP672368.RATLMpnExDZ1BBGg6dONcG4W0Eifri9VpUpx5mZc8fWYU130_provenance.