Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion> ?p ?o ?g. }
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- NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion type Assertion NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_head.
- NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion description "[Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_provenance.
- NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion evidence source_evidence_literature NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_provenance.
- NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion SIO_000772 18435799 NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_provenance.
- NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion wasDerivedFrom befree-20150227 NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_provenance.
- NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_assertion wasGeneratedBy ECO_0000203 NP399136.RAHc9tQ1BzeL6dJONip_wUO3E3q6wIPB1c3wqwRsCtyKk130_provenance.