Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion> ?p ?o ?g. }
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- NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion type Assertion NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_head.
- NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion description "[Although sequence analysis was performed with all five candidate genes, only four (17.39%) of the 23 probands showed mutations in TYR and 2 probands (8.69%) showed an unreported novel mutation in P. Genetic counseling for phenotypical diagnosis and genetic mutation screening of these genes will help to minimize the incidence of OCA and OA in future generations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance.
- NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion evidence source_evidence_literature NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance.
- NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion SIO_000772 20806075 NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance.
- NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion wasDerivedFrom befree-20140225 NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance.
- NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion wasGeneratedBy ECO_0000203 NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance.