Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion> ?p ?o ?g. }
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- NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion type Assertion NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_head.
- NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion description "[These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_provenance.
- NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion evidence source_evidence_literature NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_provenance.
- NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion SIO_000772 9538513 NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_provenance.
- NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion wasDerivedFrom befree-20140225 NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_provenance.
- NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_assertion wasGeneratedBy ECO_0000203 NP589966.RA1C0My5zgbNddbvxiCOmHYfE_XDaXPQSkzpG7IaUJ-3g130_provenance.