Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion> ?p ?o ?g. }
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- NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion type Assertion NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_head.
- NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance.
- NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion evidence source_evidence_literature NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance.
- NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion SIO_000772 21044901 NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance.
- NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion wasDerivedFrom befree-20140225 NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance.
- NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion wasGeneratedBy ECO_0000203 NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance.