Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_assertion> ?p ?o ?g. }
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- NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_assertion type Assertion NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_head.
- NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_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." NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_provenance.
- NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_assertion evidence source_evidence_literature NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_provenance.
- NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_assertion SIO_000772 23166088 NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_provenance.
- NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_assertion wasDerivedFrom befree-20150227 NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_provenance.
- NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_assertion wasGeneratedBy ECO_0000203 NP256749.RA0Edv5nxEXgE_CBJA42pLKM3OmQDPEf5_eGCNit01Bmc130_provenance.