Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion> ?p ?o ?g. }
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- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion type Assertion NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_head.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion wasGeneratedBy ECO_0000218 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion wasDerivedFrom uniprot-2016 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion SIO_000772 16459341 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion evidence source_evidence_curated NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_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." NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.