Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion> ?p ?o ?g. }
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- NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion type Assertion NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_head.
- NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion description "[A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine-dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_provenance.
- NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion evidence source_evidence_literature NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_provenance.
- NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion SIO_000772 23166088 NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_provenance.
- NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion wasDerivedFrom befree-2016 NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_provenance.
- NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_assertion wasGeneratedBy ECO_0000203 NP1029702.RAQNClXAC-UZpzErbn2a7zGcjYxgi33Pp_nnWn3CL3OLE130_provenance.