Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion> ?p ?o ?g. }
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- NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion type Assertion NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_head.
- NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion description "[CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_provenance.
- NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion evidence source_evidence_literature NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_provenance.
- NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion SIO_000772 19021638 NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_provenance.
- NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion wasDerivedFrom befree-2016 NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_provenance.
- NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_assertion wasGeneratedBy ECO_0000203 NP704844.RABY0PLn8rKhnt8KMbXjUQBXA32w0JTOYNATQNAZiBNCc130_provenance.