1.
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Individuals who inherit a pathogenic mutation in SDHA have an increased risk of cancer. However, there is often insufficient evidence to properly assess pathogenicity, an [...]
2023-12-14 |
Dissertation |
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2.
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Genetic inactivation of SDHA can lead to succinate dehydrogenase (SDH)-deficiency and is implicated in a variety of human diseases. In particular, germline loss-of-functi [...]
2022 |
Abstract |
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3.
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The majority of gastrointestinal stromal tumor (GIST) are driven by mutations in KIT or platelet derived growth factor receptor alpha (PDGFRA) receptor tyrosine kinases. [...]
2022 |
Abstract |
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4.
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Gastrointestinal stromal tumor (GIST) is the most common sarcoma of the GI tract. The second most common type of GIST is driven by oncogenic mutations in PDGFRA, of which [...]
2021 |
Abstract |
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