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- source_evidence_literature type ECO_0000212 NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP356993.RA33_Sh7R7qxzs-Fq8Yx2sKOGbpEcnirzOTk2KkyqLpxo130_provenance.