Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_assertion description "[only 14% of familial and 11% of sporadic cases; 2) The majority of familial (and presumably sporadic) cases of KS are caused by defects in at least two autosomal genes that are currently unknown; 3) Obligate female carriers in families with KAL mutations have no discernible phenotype; 4) KAL mutations are uniformly absent in patients with either normosmic IHH or in families with both anosmic and nonanosmic individuals; and 5) Patients with KAL mutations have apulsatile LH secretion consistent with a complete absence of GnRH migration of GnRH cells into the hypothalamus, whereas evidence of present (but enfeebled) GnRH-induced LH pulses may be present in autosomal KS cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_assertion evidence source_evidence_literature NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_assertion SIO_000772 11297579 NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_assertion wasDerivedFrom befree-20140225 NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_assertion wasGeneratedBy ECO_0000203 NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP192117.RAp0qvvPo9Z8RJC1v2g81I6Z5-l3XTbnawSzIddbLaAv8130_provenance.