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Article

Tumor and Constitutional Sequencing for Neurofibromatosis Type 1

1 May 2022

Abstract excerpt

PURPOSE NF1 variants in tumors are important to recognize, as multiple mechanisms may give rise to biallelic variants. Both deletions and copy-neutral loss of heterozygosity (LOH) are potential mechanisms of NF1 loss, distinct from point mutations, and additional genes altered may drive different tumor types. This study investigates whether tumors from individuals with neurofibromatosis type 1 (NF1) demonstrate...

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PMID: 35584348
DOI: 10.1200/po.21.00540

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