Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion> ?p ?o ?g. }
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- NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion type Assertion NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_head.
- NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion description "[The identification of these three ASB mutations documents the first evidence of molecular heterogeneity in MPS VI and provides an initial basis for genotype/phenotype correlations in this lysosomal storage disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_provenance.
- NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion evidence source_evidence_literature NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_provenance.
- NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion SIO_000772 1550123 NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_provenance.
- NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion wasDerivedFrom befree-20140225 NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_provenance.
- NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_assertion wasGeneratedBy ECO_0000203 NP228748.RA6xStpagPOFpF_MxNER5fMmVuChj870paRi4Cr9a1E74130_provenance.