Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion> ?p ?o ?g. }
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- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion type Assertion NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_head.
- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion wasGeneratedBy ECO_0000218 NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.
- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion wasDerivedFrom uniprot-20130724 NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.
- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion SIO_000772 16459341 NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.
- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion evidence source_evidence_curated NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.
- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_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." NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.