Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_assertion type Assertion NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_head.
- NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_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." NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_provenance.
- NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_assertion evidence source_evidence_literature NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_provenance.
- NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_assertion SIO_000772 23039266 NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_provenance.
- NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_assertion wasDerivedFrom befree-20150227 NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_provenance.
- NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_assertion wasGeneratedBy ECO_0000203 NP236856.RABJkOHlrF9yMOH1rZng-6SBUT-zb9ODftYkj_HtJke4U130_provenance.