Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_assertion> ?p ?o ?g. }
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- NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_assertion type Assertion NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_head.
- NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_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." NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_provenance.
- NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_assertion evidence source_evidence_literature NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_provenance.
- NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_assertion SIO_000772 21044901 NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_provenance.
- NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_assertion wasDerivedFrom befree-20150227 NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_provenance.
- NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_assertion wasGeneratedBy ECO_0000203 NP259746.RApIH8kjF6-glVZrgFZDcYp96oyKcIHLHZzOwCowfPpLw130_provenance.