ArticleAmerican journal of human genetics2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
M Upadhyaya et al.PubMed ↗Full text ↗Publisher ↗
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