Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_assertion> ?p ?o ?g. }
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- NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_assertion type Assertion NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_head.
- NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_assertion wasGeneratedBy ECO_0000203 NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_provenance.
- NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_assertion wasDerivedFrom befree-2016 NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_provenance.
- NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_assertion SIO_000772 11297579 NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_provenance.
- NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_assertion evidence source_evidence_literature NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_provenance.
- NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_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." NP314016.RAeg4xW5htvGp0mx1zzt-Tt1d-VivwwZBzcADa_rPQZy0130_provenance.