Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion> ?p ?o ?g. }
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- NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion type Assertion NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_head.
- NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion description "[WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_provenance.
- NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion evidence source_evidence_literature NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_provenance.
- NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion SIO_000772 22685593 NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_provenance.
- NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion wasDerivedFrom befree-2016 NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_provenance.
- NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_assertion wasGeneratedBy ECO_0000203 NP988939.RAbRnQB1oj1_lyIWh7QY4QGixcoTzPpOONF2Bq7dYWfDI130_provenance.