Article

A genotype-first approach identifies high incidence of<i>NF1</i>pathogenic variants with distinct disease associations

2023-08-10

Abstract excerpt

Loss of function variants in the NF1 gene cause neurofibromatosis type 1 (NF1), a genetic disorder characterized by complete penetrance, prevalence of 1 in 3,000, characteristic physical exam findings, and a substantially increased risk for malignancy. However, our understanding of the disorder is entirely based on patients ascertained through phenotype-first approaches. Leveraging a genotype-first approach in two...

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Literature Corpus work: 8cbdab47-fa17-5d77-853f-0c9c1c7aa29d
DOI: 10.1101/2023.08.08.23293676

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