Performance Evaluation of SpliceAI for the Prediction of Splicing of <i>NF1</i> Variants

Performance Evaluation of SpliceAI for the Prediction of Splicing of <i>NF1</i> Variants

Neurofibromatosis type 1, characterized by neurofibromas and café-au-lait macules, is one of the most common genetic disorders caused by pathogenic <i>NF1</i> variants. Because of the high proportion of splicing mutations in <i>NF1</i>, identifying variants that alter splicin...

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Bibliographic Details
Main Authors: Changhee Ha, Jong-Won Kim, Ja-Hyun Jang
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
neurofibromatosis type 1
<i>NF1</i>
SpliceAI
<i>in silico</i> prediction
splice variants
Online Access:https://www.mdpi.com/2073-4425/12/9/1308

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