Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion> ?p ?o ?g. }
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- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion type Assertion NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_head.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion description "[A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion evidence source_evidence_literature NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion SIO_000772 25714420 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion wasDerivedFrom befree-2016 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion wasGeneratedBy ECO_0000203 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.