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Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children
Background: Neurofibromatosis 1 (NF1) is one of the most common dominantly inherited genetic disorders worldwide, with an age-dependent phenotypic expression. Exploring the mutational spectrum and clinical presentation of NF1 patients at different ages from a diverse population will aid the understa...
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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6896037/ https://ncbi.nlm.nih.gov/pubmed/31717729 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10110847 |
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