Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion> ?p ?o ?g. }
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- NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion type Assertion NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_head.
- NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_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." NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance.
- NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion evidence source_evidence_literature NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance.
- NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion SIO_000772 21044901 NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance.
- NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion wasDerivedFrom befree-20140225 NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance.
- NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_assertion wasGeneratedBy ECO_0000203 NP756288.RAVKrvgUD6hHivcsjAknRZAnz6_vQnNbl2ZRGctKObw_w130_provenance.