Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_assertion> ?p ?o ?g. }
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- NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_assertion type Assertion NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_head.
- NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_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." NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_provenance.
- NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_assertion evidence source_evidence_literature NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_provenance.
- NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_assertion SIO_000772 21044901 NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_provenance.
- NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_assertion wasDerivedFrom befree-20140225 NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_provenance.
- NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_assertion wasGeneratedBy ECO_0000203 NP475868.RALIU2aUI0Bhs7pnRxKVyIYnTaOjMLiQXBHtWUhREcUQ8130_provenance.