Enlarged genotype-phenotype correlation for a deletion in neurofibromatosis type 1

New research shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the mutation does cause complications. These include non-optic brain tumors, mostly low-grade and asymptomatic, as well as cognitive impairment and/or learning disabilities.

Source: sciencedaily.com

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