Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion description "[They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion evidence source_evidence_curated NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion SIO_000772 10332035 NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion wasDerivedFrom uniprot-20150221 NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion wasGeneratedBy ECO_0000218 NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance.