Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_assertion> ?p ?o ?g. }
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- NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_assertion type Assertion NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_head.
- NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_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." NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_provenance.
- NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_assertion evidence source_evidence_literature NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_provenance.
- NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_assertion SIO_000772 23144074 NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_provenance.
- NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_assertion wasDerivedFrom befree-20150227 NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_provenance.
- NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_assertion wasGeneratedBy ECO_0000203 NP583662.RAba5pI7pX3rRjAj03kqPTE16459q8Srhz7EtGp1c52y8130_provenance.