Associated Papers
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Sparber P et al.
Brain : a Journal of Neurology, 2024
From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models.
Capasso M et al.
Journal of Translational Medicine, 2024
38351008 (PubMed )
Supplement: 12967_2024_4954_MOESM2_ESM.xlsx › Table_S4
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Y et al.
Data in Brief, 2019
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