NF1 Mutational Spectrum
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KARGER
Cited by 75 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1;Molecular Therapy - Nucleic Acids;2023-09
2. KMT2A‐D pathogenicity, prevalence, and variation according to a population database;Cancer Medicine;2022-12-08
3. Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1;European Journal of Human Genetics;2022-07-26
4. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?;Journal of Medical Genetics;2022-02-04
5. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24
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