Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion> ?p ?o ?g. }
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- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion type Assertion NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_head.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion description "[Two mutations in the MCOLN1 mucolipidosis IV (ML IV) gene represent approximately 95% of the mutations in Ashkenazi-Jewish patients with ML IV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion evidence source_evidence_literature NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion SIO_000772 16645217 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion wasDerivedFrom befree-2016 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.
- NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_assertion wasGeneratedBy ECO_0000203 NP547286.RABp58wX_HFiWlpLKOhBtUPSJFp9MiGBZUylY1_1mDhFs130_provenance.