Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion> ?p ?o ?g. }
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- NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion type Assertion NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_head.
- NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion wasGeneratedBy ECO_0000203 NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_provenance.
- NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion wasDerivedFrom befree-20140225 NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_provenance.
- NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion SIO_000772 15024738 NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_provenance.
- NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion evidence source_evidence_literature NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_provenance.
- NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_assertion description "[In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP468454.RAF29rMrPmEfC_gUB36D5xaz_7lbz4OKIhT6kG6DYGhLw130_provenance.