Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion> ?p ?o ?g. }
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- NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion type Assertion NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_head.
- NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion description "[Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_provenance.
- NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion evidence source_evidence_literature NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_provenance.
- NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion SIO_000772 11745997 NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_provenance.
- NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion wasDerivedFrom befree-2016 NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_provenance.
- NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_assertion wasGeneratedBy ECO_0000203 NP339079.RAudQaBu0uoJtQYgYXS-hYL7ta1LpRrKCrLv7jkNAjVio130_provenance.