Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion> ?p ?o ?g. }
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- NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion type Assertion NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_head.
- NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion description "[Mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene cause hypophosphatasia (HPP), an inborn error of metabolism characterized by defects in bone and teeth mineralization accompanying subnormal levels of serum alkaline phosphatase activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_provenance.
- NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion evidence source_evidence_literature NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_provenance.
- NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion SIO_000772 23039266 NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_provenance.
- NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion wasDerivedFrom befree-2016 NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_provenance.
- NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_assertion wasGeneratedBy ECO_0000203 NP1018371.RAPyvEA4s6pOhFHvPkyIQRiaPKa6BXyrkHXXI09GH8Hxw130_provenance.