Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_assertion> ?p ?o ?g. }
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- NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_assertion type Assertion NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_head.
- NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_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." NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_provenance.
- NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_assertion evidence source_evidence_literature NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_provenance.
- NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_assertion SIO_000772 23144074 NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_provenance.
- NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_assertion wasDerivedFrom befree-20140225 NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_provenance.
- NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_assertion wasGeneratedBy ECO_0000203 NP307914.RAEshNOJtn6RYH1w8IM3lNYOzfOxHKn6VcBX-9jCaC90U130_provenance.