Article

Genotypic Variability in Neurofibromin Domains to Predict Phenotypic Outcomes of Neurofibromatosis type 1: Evidence from a Prospective Clinical-Genetic Cohort

2025-08-04

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Neurofibromatosis type 1 (NF1), caused by mutations in the <italic>NF1</italic> gene, exhibits significant clinical heterogeneity. Recent studies have identified potential correlations between specific phenotypes and neurofibromin domains of the mutated <italic>NF1</italic> gene; however, research into these specific associations remains limited. <bold>Pu...

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Literature Corpus work: 9ee7d42c-0f87-5b2c-a78f-950bbba45418
DOI: 10.21203/rs.3.rs-7008119/v1

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