ArticleHuman genetics2023

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.

Magdalena Koczkowska et al.PubMed ↗Full text ↗Publisher ↗

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