Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_assertion> ?p ?o ?g. }
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- NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_assertion type Assertion NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_head.
- NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_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." NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_provenance.
- NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_assertion evidence source_evidence_literature NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_provenance.
- NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_assertion SIO_000772 17569090 NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_provenance.
- NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_assertion wasDerivedFrom befree-2016 NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_provenance.
- NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_assertion wasGeneratedBy ECO_0000203 NP615266.RA6AfVdPZKCCdeRyttfyDp3PWI0_oZDVU9B6tqmtDl9qw130_provenance.