Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion> ?p ?o ?g. }
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- NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion type Assertion NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_head.
- NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion description "[A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_provenance.
- NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion evidence source_evidence_literature NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_provenance.
- NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion SIO_000772 22061863 NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_provenance.
- NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion wasDerivedFrom befree-20150227 NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_provenance.
- NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_assertion wasGeneratedBy ECO_0000203 NP936126.RAUu247VNgkndiwnj77UZcavw-XXXAfdA_gKu-nRzF4Rs130_provenance.