Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion> ?p ?o ?g. }
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- NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion type Assertion NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_head.
- NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion description "[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_provenance.
- NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion evidence source_evidence_literature NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_provenance.
- NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion SIO_000772 17569090 NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_provenance.
- NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion wasDerivedFrom befree-20140225 NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_provenance.
- NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_assertion wasGeneratedBy ECO_0000203 NP626113.RAtrDkyXBAqus9VFXQ1u0s-n0ATscuW-kuTSNjKD6vZdk130_provenance.