Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion> ?p ?o ?g. }
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- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion type Assertion NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_head.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion description "[Sequencing of the entire GJB2 gene-coding region in Czech patients with pre-lingual bilateral hearing loss revealed that 10.3% of Czech patients carry only one monoallelic pathogenic mutation in the coding region of the GJB2 gene, which is significantly more than the population frequency of 3.4%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion evidence source_evidence_literature NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion SIO_000772 16650079 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion wasDerivedFrom befree-2016 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion wasGeneratedBy ECO_0000203 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.