Analysis of 200 Unrelated Individuals with a Constitutional NF1 Deep Intronic Pathogenic Variant Reveals That Variants Flanking the Alternatively Spliced NF1 Exon 31 [23a] Cause a Classical Neurofibromatosis Type 1 Phenotype While Altering Predominantly NF1 Isoform Type II

Human genetics(2023)

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摘要
Neurofibromatosis type 1 results from loss-of-function NF1 pathogenic variants (PVs). Up to 30
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Neurofibromatosis
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