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Diversity of ATM gene variants: a population-based genome data analysis for precision medicine

BACKGROUND: Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder that causes deficiency or dysfunction of the ataxia-telangiectasia mutated (ATM) protein. Not only AT patients, but also certain ATM heterozygous mutation carriers show a significantly reduced life expectancy due to cancer...

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Detalles Bibliográficos
Autores principales: Fukunaga, Hisanori, Taki, Yasuyuki, Prise, Kevin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708157/
https://www.ncbi.nlm.nih.gov/pubmed/31443742
http://dx.doi.org/10.1186/s40246-019-0234-2