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Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants
The ataxia telangiectasia‐mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss‐of‐function variants are associated with 2‐fold increased breast cancer risk. We aimed at identifying and classifying spliceogenic ATM variants detected in subjects of the large‐scale...
Autores principales: | Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Valenzuela‐Palomo, Alberto, Esteban‐Sánchez, Ada, Lorca, Víctor, Llinares‐Burguet, Inés, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Durán, Mercedes, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, de la Hoya, Miguel, Velasco‐Sampedro, Eladio A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541484/ https://www.ncbi.nlm.nih.gov/pubmed/35716007 http://dx.doi.org/10.1002/path.5979 |
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