Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion> ?p ?o ?g. }
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- NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion type Assertion NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_head.
- NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion wasGeneratedBy ECO_0000203 NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_provenance.
- NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion wasDerivedFrom befree-20140225 NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_provenance.
- NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion SIO_000772 22019272 NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_provenance.
- NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion evidence source_evidence_literature NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_provenance.
- NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_assertion description "[We have identified human null and hypomorphic mutations in the gene encoding the RA-degrading enzyme CYP26B1 that lead to skeletal and craniofacial anomalies, including fusions of long bones, calvarial bone hypoplasia, and craniosynostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP342530.RAp_CqRlGy5VbCSeQApVyCA-MlrebK910LU8p8cilzGSs130_provenance.