Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion> ?p ?o ?g. }
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- NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion type Assertion NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_head.
- NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion wasGeneratedBy ECO_0000218 NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_provenance.
- NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion wasDerivedFrom uniprot-20130724 NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_provenance.
- NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion SIO_000772 17632512 NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_provenance.
- NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion evidence source_evidence_curated NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_provenance.
- NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion description "[By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_provenance.