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Article

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Genes - 25 Aug 2021

Ha Changhee, Kim Jong-Won, Jang Ja-Hyun

Abstract excerpt

Neurofibromatosis type 1, characterized by neurofibromas and café-au-lait macules, is one of the most common genetic disorders caused by pathogenic NF1 variants. Because of the high proportion of splicing mutations in NF1, identifying variants that alter splicing may be an essential issue for laboratories. Here, we investigated the sensitivity and specificity of SpliceAI, a recently introduced in silico splicing...

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Identifiers

PMID: 34573290
DOI: 10.3390/genes12091308
PMCID: PMC8472818

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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