Article
Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals.
Neuromolecular medicine - 1 Dec 2012
Zatz Mayana, Pavanello Rita de Cassia M, Lourenço Naila Cristina V, Cerqueira Antonia, Lazar Monize, Vainzof Mariz
Abstract excerpt
Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilateral coloboma and hearing loss, but without mus...
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