Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion> ?p ?o ?g. }
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- NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion type Assertion NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_head.
- NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion description "[A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_provenance.
- NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion evidence source_evidence_literature NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_provenance.
- NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion SIO_000772 21487377 NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_provenance.
- NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion wasDerivedFrom befree-20140225 NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_provenance.
- NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_assertion wasGeneratedBy ECO_0000203 NP508969.RAy1-Lwk3acgRMWletVcSDycr0nbI3MLUkcX2U7I2zx04130_provenance.