Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals

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 muscle...

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Detalles Bibliográficos
Autores principales: Zatz, Mayana, Pavanello, Rita de Cassia M., Lourenço, Naila Cristina V., Cerqueira, Antonia, Lazar, Monize, Vainzof, Mariz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Humana Press Inc 2012
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505535/
https://www.ncbi.nlm.nih.gov/pubmed/22707356
http://dx.doi.org/10.1007/s12017-012-8186-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505535/
https://www.ncbi.nlm.nih.gov/pubmed/22707356
http://dx.doi.org/10.1007/s12017-012-8186-x

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