Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion> ?p ?o ?g. }
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- NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion type Assertion NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_head.
- NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion wasGeneratedBy ECO_0000203 NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_provenance.
- NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion wasDerivedFrom befree-20140225 NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_provenance.
- NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion SIO_000772 15001591 NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_provenance.
- NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion evidence source_evidence_literature NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_provenance.
- NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_assertion description "[The results suggest the following: 1) KAL1 mutations might be more prevalent in the Japanese patients than previously estimated in the Caucasian patients and can be associated with apparently normal olfactory function; 2) FGFR1 mutations account for approximately 10% of KS patients, as previously reported in the Caucasian patients, and can result in HH and olfactory dysfunction-only phenotype; and 3) renal aplasia, which is characteristic of KAL1 mutations, and cleft palate and dental agenesis, which are characteristic of FGFR1 mutations, can occur in patients without KAL1 and FGFR1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP340060.RAoq6lzhEhUXOIgxqn1K6VUGGit4Z3RxzVuN6RgEd-f9k130_provenance.