Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion type Assertion NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_head.
- NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion wasGeneratedBy ECO_0000203 NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_provenance.
- NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion wasDerivedFrom befree-20150227 NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_provenance.
- NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion SIO_000772 21252500 NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_provenance.
- NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion evidence source_evidence_literature NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_provenance.
- NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_assertion description "[A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A→G) segregating with the hearing loss in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP966762.RApPmza5knn4CdNNQ7DsPNlxCD5JN9m0mvodq3t6TTPZw130_provenance.