Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_assertion> ?p ?o ?g. }
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- NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_assertion type Assertion NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_head.
- NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_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." NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_assertion evidence source_evidence_literature NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_assertion SIO_000772 12050213 NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_assertion wasDerivedFrom befree-2016 NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_assertion wasGeneratedBy ECO_0000203 NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.