Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth

Neurofibromatosis type-1 (NF1) patients suffer from cutaneous and subcutaneous neurofibromas (CNF) and large plexiform neurofibromas (PNF). Whole gene deletions of the NF1 gene can cause a more severe phenotype compared to smaller intragenic changes. Two distinct groups of NF1 whole gene deletions a...

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Detalles Bibliográficos
Autores principales: Well, Lennart, Döbel, Kimberly, Kluwe, Lan, Bannas, Peter, Farschtschi, Said, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099117/
https://www.ncbi.nlm.nih.gov/pubmed/33951044
http://dx.doi.org/10.1371/journal.pgen.1009517

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