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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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| Publicado en: | Hum Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer Berlin Heidelberg
2017
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| Assuntos: | |
| Acceso en liña: | 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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