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A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family

BACKGROUND: The use of high-throughput genotyping techniques has enabled us to identify the rare germline genetic variants with different pathogenicity and penetrance, and understand their role in cancer predisposition. We report here a familial cancer case, a study from Western Indian. METHODS: NGS...

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Detalles Bibliográficos
Autores principales: Biswas, Shristi, Manekar, Swati, Bakshi, Sonal Rajiv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: West Asia Organization for Cancer Prevention 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505862/
https://www.ncbi.nlm.nih.gov/pubmed/37378944
http://dx.doi.org/10.31557/APJCP.2023.24.6.2129