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- source_evidence_literature type ECO_0000212 NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_assertion description "[We examined 101 individuals with IHH (+/- anosmia) and their families to determine their modes of inheritance, incidence of mutations in the coding sequence of KAL, genotype-phenotype correlations, and [in a subset (n = 38)] their neuroendocrine phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_assertion evidence source_evidence_literature NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_assertion SIO_000772 11297579 NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_assertion wasDerivedFrom befree-20140225 NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_assertion wasGeneratedBy ECO_0000203 NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP180975.RAoi3QWXPsGwfwn5MLL-0Q157eAQNF8lLN55PmXxyDEOU130_provenance.