Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion> ?p ?o ?g. }
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- NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion type Assertion NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_head.
- NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion description "[This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_provenance.
- NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion evidence source_evidence_literature NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_provenance.
- NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion SIO_000772 23356391 NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_provenance.
- NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion wasDerivedFrom befree-20140225 NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_provenance.
- NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_assertion wasGeneratedBy ECO_0000203 NP348099.RA22j1HWjgxNv6BZl8qCTJDKgF4Hlxl0MoS3zaACysxkE130_provenance.