Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_assertion> ?p ?o ?g. }
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- NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_assertion type Assertion NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_head.
- NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_assertion wasGeneratedBy ECO_0000203 NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_provenance.
- NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_assertion wasDerivedFrom befree-2016 NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_provenance.
- NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_assertion SIO_000772 21252500 NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_provenance.
- NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_assertion evidence source_evidence_literature NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_provenance.
- NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_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." NP866806.RAdXGn5Qsm7I01OkcNwxSWYmAQsEHy1-qQSHnyVGjW8VU130_provenance.