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The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity of this condition, with more than 3,000 pathogenic variants reported so far, is paralleled by its high clinical variability, which is observe...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6503065/ https://ncbi.nlm.nih.gov/pubmed/30843352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.616 |
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