Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion> ?p ?o ?g. }
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- NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion type Assertion NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_head.
- NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_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." NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance.
- NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion evidence source_evidence_literature NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance.
- NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion SIO_000772 17569090 NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance.
- NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion wasDerivedFrom befree-20140225 NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance.
- NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_assertion wasGeneratedBy ECO_0000203 NP368052.RAWJkFKVUHw4g3juUUGi-pUFFl1qh7ZzMk4GmdWxAMT28130_provenance.