Listar por tema "Microdeletions"
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The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: an Evolutive Approach
(2019) [Artículo de periódico]Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally ...