Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion> ?p ?o ?g. }
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- NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion type Assertion NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_head.
- NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion wasGeneratedBy ECO_0000203 NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_provenance.
- NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion wasDerivedFrom befree-2016 NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_provenance.
- NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion SIO_000772 22387303 NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_provenance.
- NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion evidence source_evidence_literature NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_provenance.
- NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_assertion description "[Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP965241.RApuA_T-ogH3SA9hec_wxaSoy7iUpvIdWVxV2I7GSbDK8130_provenance.