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Emerging genotype–phenotype relationships in patients with large NF1 deletions

The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. P...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Kehrer-Sawatzki, Hildegard, Mautner, Victor-Felix, Cooper, David N.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5370280/
https://ncbi.nlm.nih.gov/pubmed/28213670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1766-y
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