Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion> ?p ?o ?g. }
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- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion type Assertion NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_head.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion description "[Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extensive fat loss and biochemical changes, more severe intellectual impairment, and more severe cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion evidence source_evidence_literature NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion SIO_000772 21126715 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion wasDerivedFrom befree-20140225 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion wasGeneratedBy ECO_0000203 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.