Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_assertion> ?p ?o ?g. }
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- NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_assertion type Assertion NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_head.
- NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_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." NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_provenance.
- NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_assertion evidence source_evidence_literature NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_provenance.
- NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_assertion SIO_000772 17569090 NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_provenance.
- NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_assertion wasDerivedFrom befree-20140225 NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_provenance.
- NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_assertion wasGeneratedBy ECO_0000203 NP436819.RADf5gecFu1NtstM0GXfvdKNwXUxVRPYSnAy5yO641LlE130_provenance.