Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_assertion wasGeneratedBy ECO_0000203 NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_assertion wasDerivedFrom befree-20140225 NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_assertion SIO_000772 16459341 NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_assertion evidence source_evidence_literature NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.