Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion> ?p ?o ?g. }
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- NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion type Assertion NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_head.
- NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion description "[The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_provenance.
- NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion evidence source_evidence_literature NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_provenance.
- NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion SIO_000772 12050213 NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_provenance.
- NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion wasDerivedFrom befree-20150227 NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_provenance.
- NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_assertion wasGeneratedBy ECO_0000203 NP735043.RA1H6VXekApmH3ltiv-Fc2y-dXPvkaJPUc-QG5PM5Rg18130_provenance.