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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2022
Materias:
Original Articles
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

Internet

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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