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- source_evidence_literature type ECO_0000212 NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_assertion description "[We have identified compound heterozygous mutations in the gene encoding human PAPS synthase 2 (PAPSS2) in a girl with premature pubarche, hyperandrogenic anovulation, very low DHEAS levels, and increased androgen levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_assertion evidence source_evidence_literature NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_assertion SIO_000772 19474428 NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_assertion wasDerivedFrom befree-20150227 NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_assertion wasGeneratedBy ECO_0000203 NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP814432.RAm1CRckSYzScA8kJkcQGZGmEx4njeo7pohwS_30_jnlA130_provenance.