Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion> ?p ?o ?g. }
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- NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion type Assertion NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_head.
- NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion description "[Here, we report a family with PXE-like cutaneous features in association with multiple coagulation factor deficiency, an autosomal recessive disorder associated with GGCX mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_provenance.
- NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion evidence source_evidence_literature NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_provenance.
- NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion SIO_000772 18800149 NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_provenance.
- NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion wasDerivedFrom befree-20140225 NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_provenance.
- NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_assertion wasGeneratedBy ECO_0000203 NP447480.RAPNngH2XJsB8g352ee2bPzhsmmfNx9z3-0imNq-GBWBE130_provenance.