Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_assertion> ?p ?o ?g. }
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- NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_assertion type Assertion NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_head.
- NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_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." NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_provenance.
- NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_assertion evidence source_evidence_literature NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_provenance.
- NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_assertion SIO_000772 18435799 NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_provenance.
- NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_assertion wasDerivedFrom befree-20150227 NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_provenance.
- NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_assertion wasGeneratedBy ECO_0000203 NP530293.RAqDxeJxmJ602c1aan96SBunPNh1KQthAVqcolCMjZmvU130_provenance.