Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_assertion> ?p ?o ?g. }
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- NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_assertion type Assertion NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_head.
- NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_assertion wasGeneratedBy ECO_0000203 NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_provenance.
- NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_assertion wasDerivedFrom befree-20140225 NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_provenance.
- NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_assertion SIO_000772 22387303 NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_provenance.
- NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_assertion evidence source_evidence_literature NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_provenance.
- NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_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." NP225920.RAq7ZNzbZ7NH_qxZyDUQ72xyBcyAXcj3cNBPFo0esypko130_provenance.