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- source_evidence_literature type ECO_0000212 NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_assertion description "[This mutation represents now 4% of GJB2 pathogenic mutations in Czech patients and is the third most common GJB2 mutation found in our cohort of 242 unrelated Czech patients with prelingual hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_assertion evidence source_evidence_literature NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_assertion SIO_000772 16650079 NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_assertion wasDerivedFrom befree-2016 NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_assertion wasGeneratedBy ECO_0000203 NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.
- befree-2016 importedOn "2016-02-19" NP547624.RAvhfvrVQ74WB4OtkN5UGVYZNHeEcGqybs_vZ7OR36vPo130_provenance.