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

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Journal

The American Journal of Human Genetics

Topics

Biology

Neurology

Rheumatology

Pulmonary And Respiratory Medicine

Phenotype

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DOI

10.1086/510781

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publisher-specific-oa