Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion description "[The clinically unaffected parents were heterozygous for the mutations, suggesting that both COL7A1 gene defects were recessively inherited disease-causing mutations that are 'silent' in heterozygous carriers but in combination can severely interfere with the dermal-epidermal adhesion and lead to severe EBD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion evidence source_evidence_literature NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion SIO_000772 9284109 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion wasDerivedFrom befree-20150227 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_assertion wasGeneratedBy ECO_0000203 NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP320522.RALBXwnrDk12xU7x7kblqe7OKXthVnvJfXg3gvEmgAbn4130_provenance.