Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion wasGeneratedBy ECO_0000218 NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion wasDerivedFrom uniprot-20130724 NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion SIO_000772 15001591 NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion evidence source_evidence_curated NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion description "[Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.