Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion> ?p ?o ?g. }
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- NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion type Assertion NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_head.
- NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion description "[The patient came from an inbred Mennonite family, and though the mutation identified her as an AME patient, she had a normal birth weight and did not demonstrate the typical features of AME, such as hypokalemic alkalosis, low birth weight, failure to thrive, poor growth, and in many cases nephrocalcinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_provenance.
- NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion evidence source_evidence_literature NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_provenance.
- NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion SIO_000772 10599743 NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_provenance.
- NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion wasDerivedFrom befree-20140225 NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_provenance.
- NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_assertion wasGeneratedBy ECO_0000203 NP605024.RAthbBZKDWIHzfUqjw9BADTAfZgpI3k-IFwJGFkK3SD20130_provenance.