Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
Abstract 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 typ...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-07-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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