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- source_evidence_literature type ECO_0000212 NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_assertion description "[We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_assertion evidence source_evidence_literature NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_assertion SIO_000772 14583444 NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_assertion wasDerivedFrom befree-2016 NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_assertion wasGeneratedBy ECO_0000203 NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.
- befree-2016 importedOn "2016-02-19" NP418526.RASr_EOJDPPa4GY2huFppB7Q55VVfhgcScMfMjF5HK-JA130_provenance.