Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion description "[The novel variants that were observed only in the infertile cohort included the SNP c.65G>A mutation which resulted in an amino acid change at the codon 22 (p.Ser22Asn) in the PRM1 gene, a mutation in the promoter region of PRM2 (-67C>T) and a nonsense mutation in the PRM3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion evidence source_evidence_literature NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion SIO_000772 19602509 NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion wasDerivedFrom befree-20140225 NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion wasGeneratedBy ECO_0000203 NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance.