Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion type Assertion NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_head.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion evidence source_evidence_curated NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion SIO_000772 15940695 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion wasDerivedFrom ctd_human-20150221 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion wasGeneratedBy ECO_0000218 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.