Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion> ?p ?o ?g. }
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- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion type Assertion NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_head.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion description "[Boucher-Neuh�user/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion evidence source_evidence_literature NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion SIO_000772 25178427 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion wasDerivedFrom befree-2016 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion wasGeneratedBy ECO_0000203 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.