Articles with "recurrently mutated" as a keyword



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A guilt-by-association mutation network in LGL leukemia

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Published in 2017 at "Oncotarget"

DOI: 10.18632/oncotarget.21699

Abstract: Large granular lymphocyte leukemia (LGLL) is a rare clonal disease characterized by an excess of CD8+ cytotoxic T cells or natural killer (NK) cells and associated with severe cytopenias, recurrent infections, and autoimmune diseases. Known… read more here.

Keywords: guilt association; association mutation; somatic mutations; leukemia ... See more keywords
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Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

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Published in 2023 at "Genes"

DOI: 10.3390/genes14030615

Abstract: Craniosynostosis, the premature fusion of the cranial sutures, affects ~1 in 2000 children. Although many patients with a genetically determined cause harbor a variant in one of just seven genes or have a chromosomal abnormality,… read more here.

Keywords: recurrently mutated; craniosynostosis; gene panels; review recurrently ... See more keywords