Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion> ?p ?o ?g. }
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- NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion type Assertion NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_head.
- NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion description "[We identified biallelic mutations in the SLC26A4 gene in 6 of 7 probands with PS in Taiwan, including a novel missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_provenance.
- NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion evidence source_evidence_curated NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_provenance.
- NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion SIO_000772 17697873 NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_provenance.
- NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion wasDerivedFrom ctd_human-20130708 NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_provenance.
- NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_assertion wasGeneratedBy ECO_0000218 NP29812.RA1uzGbhnKKj-An4jtFaZDMmsEcma1t4rTPBM2IwoAVK0130_provenance.