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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in NF1 gene, large deletions encompassing the NF1 gene and its flanking regions are responsible for the development of the variable clinical phenotype...

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Detalles Bibliográficos
Autores principales:	Büki, Gergely, Zsigmond, Anna, Czakó, Márta, Szalai, Renáta, Antal, Gréta, Farkas, Viktor, Fekete, György, Nagy, Dóra, Széll, Márta, Tihanyi, Marianna, Melegh, Béla, Hadzsiev, Kinga, Bene, Judit
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217751/ https://www.ncbi.nlm.nih.gov/pubmed/34168676 http://dx.doi.org/10.3389/fgene.2021.673025

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