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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Publicat a:PLoS Genet
Autors principals: Well, Lennart, Döbel, Kimberly, Kluwe, Lan, Bannas, Peter, Farschtschi, Said, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2021
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8099117/
https://ncbi.nlm.nih.gov/pubmed/33951044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009517
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