Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion> ?p ?o ?g. }
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- NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion type Assertion NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_head.
- NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion description "[Biallelic pathogenic GJB2 gene mutations cause pre-lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_provenance.
- NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion evidence source_evidence_literature NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_provenance.
- NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion SIO_000772 16650079 NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_provenance.
- NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion wasDerivedFrom befree-2016 NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_provenance.
- NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_assertion wasGeneratedBy ECO_0000203 NP547625.RAR3BEuvTVR-qzFC6CP3PqVa5QqXJmEYGjL-YwWcpjbss130_provenance.