Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228363.RAYxX4EXLRDyLumc23X943Vud4-PiEkGPxtwcGLZyEMLA#assertion> ?p ?o ?g. }
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- assertion description "[The paternal COL4A5 mutation seems to account for the complete phenotype of ATS in the father and the maternal mutation in MYH9 for the inner ear deafness in the mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23144074 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.