Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion> ?p ?o ?g. }
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- NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion type Assertion NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_head.
- NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion description "[Hypophosphatasia (HPP) is a clinically heterogeneous rare, inherited disorder of bone and mineral metabolism with extensive allelic heterogeneity in the ALPL gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_provenance.
- NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion evidence source_evidence_literature NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_provenance.
- NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion SIO_000772 24569605 NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_provenance.
- NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion wasDerivedFrom befree-2016 NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_provenance.
- NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_assertion wasGeneratedBy ECO_0000203 NP1158123.RA47L5ZDZhvAqHM0nBPO09Gb6WNjAMnlko4Tg6sZI5UM8130_provenance.