Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_assertion description "[A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_assertion evidence source_evidence_curated NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_assertion SIO_000772 10523031 NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_assertion wasDerivedFrom uniprot-2016 NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_assertion wasGeneratedBy ECO_0000218 NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP425.RASFyJpcyJla-_-gt8V70mhdk6wdd5R2SY21bZzuvIL5c130_provenance.