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- source_evidence_literature type ECO_0000212 NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_assertion description "[Indeed, we demonstrate in two multiplex consanguineous families that we are able to map TA to regions of autozygosity in which whole-exome sequencing revealed homozygous truncating mutations in PRKD1 (encoding a kinase derepressor of MAF2) and NRP1 (encoding a coreceptor of vascular endothelial growth factor (VEGFA)).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_assertion evidence source_evidence_literature NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_assertion SIO_000772 25713110 NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_assertion wasDerivedFrom befree-2016 NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_assertion wasGeneratedBy ECO_0000203 NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266164.RAnuuKIomvNs4VfMR0wpy2W_YJrSkmWPvaC75GJKVSy6s130_provenance.