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Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
BACKGROUND: CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant. As for other genes involved in cancer predisposition, different types of pa...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660672/ https://www.ncbi.nlm.nih.gov/pubmed/31349801 http://dx.doi.org/10.1186/s12881-019-0862-3 |