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- Journal Article
- A1
- open access
Cancer surveillance in healthy carriers of germline pathogenic variants in BRCA1/2 : a review of secondary prevention guidelines
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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
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- Journal Article
- A1
- open access
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation
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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype