Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion> ?p ?o ?g. }
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- NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion type Assertion NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_head.
- NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion wasGeneratedBy ECO_0000203 NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_provenance.
- NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion wasDerivedFrom befree-20140225 NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_provenance.
- NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion SIO_000772 23840040 NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_provenance.
- NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion evidence source_evidence_literature NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_provenance.
- NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_assertion description "[A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319322.RASI90eMkE00wS1-SBx040bBVLZEAAVGym6XJcfnxqbqo130_provenance.