Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_assertion wasGeneratedBy ECO_0000203 NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_assertion wasDerivedFrom befree-20150227 NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_assertion SIO_000772 21944047 NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_assertion evidence source_evidence_literature NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.
- NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_assertion description "[Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP989630.RAAld-WbWLGgc1vjW3jCs3k83R4hvQIKXAff4J6mU49ZI130_provenance.