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)
关键词
Neurofibromatosis
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