Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion> ?p ?o ?g. }
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- NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion type Assertion NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_head.
- NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion description "[Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_provenance.
- NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion evidence source_evidence_literature NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_provenance.
- NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion SIO_000772 20806400 NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_provenance.
- NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion wasDerivedFrom befree-20150227 NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_provenance.
- NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_assertion wasGeneratedBy ECO_0000203 NP847014.RATWGH0BRQtRf5FBuH-mmf9ZJo2l5cB7ql5ZapgDCDL1s130_provenance.