Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion> ?p ?o ?g. }
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- NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion type Assertion NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_head.
- NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion wasGeneratedBy ECO_0000218 NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_provenance.
- NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion wasDerivedFrom uniprot-20150221 NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_provenance.
- NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion SIO_000772 21310277 NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_provenance.
- NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion evidence source_evidence_curated NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_provenance.
- NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_assertion description "[In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP630.RAU02KqCDPqWtOfUZbmbHDEenuocgIiNzRgGblISedAE4130_provenance.