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Tumor and Constitutional Sequencing for Neurofibromatosis Type 1

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 type...

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Detalles Bibliográficos
Autores principales: Tong, Schuyler, Devine, W. Patrick, Shieh, Joseph T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9200388/
https://www.ncbi.nlm.nih.gov/pubmed/35584348
http://dx.doi.org/10.1200/PO.21.00540