Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion> ?p ?o ?g. }
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- NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion type Assertion NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_head.
- NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion wasGeneratedBy ECO_0000203 NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_provenance.
- NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion wasDerivedFrom befree-2016 NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_provenance.
- NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion SIO_000772 12383326 NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_provenance.
- NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion evidence source_evidence_literature NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_provenance.
- NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_assertion description "[Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP371282.RA-BRiX4zmvvOTzeW5_oHyHhztCy8P3_ezToZ76V1RvvE130_provenance.