Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion> ?p ?o ?g. }
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- NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion type Assertion NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_head.
- NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion description "[The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_provenance.
- NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion evidence source_evidence_literature NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_provenance.
- NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion SIO_000772 11214689 NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_provenance.
- NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion wasDerivedFrom befree-20140225 NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_provenance.
- NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_assertion wasGeneratedBy ECO_0000203 NP347051.RA-rt9FtxIqYhNtfTHu1cYT1myABLbWQ1h2tDhwUir-OQ130_provenance.