Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_assertion wasGeneratedBy ECO_0000203 NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_assertion wasDerivedFrom befree-20140225 NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_assertion SIO_000772 11886499 NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_assertion evidence source_evidence_literature NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP476547.RABmzPaFzmjD7YrxAvcMT_uHLMqYn0lrK35ZbmBYTU_G8130_provenance.