Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_assertion type Assertion NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_head.
- NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_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." NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_provenance.
- NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_assertion evidence source_evidence_literature NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_provenance.
- NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_assertion SIO_000772 20806400 NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_provenance.
- NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_assertion wasDerivedFrom befree-2016 NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_provenance.
- NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_assertion wasGeneratedBy ECO_0000203 NP836067.RA3e3uu3BXEU8S63J5ekj316xgrL0S1M2Wia4aU-i93Ps130_provenance.