Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion> ?p ?o ?g. }
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- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion type Assertion NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_head.
- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_provenance.
- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion evidence source_evidence_literature NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_provenance.
- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion SIO_000772 17372104 NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_provenance.
- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion wasDerivedFrom befree-20140225 NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_provenance.
- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion wasGeneratedBy ECO_0000203 NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_provenance.