Associated Papers
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
Levine JM et al.
American Journal of Human Genetics, 2026
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.
Happ HC et al.
Biorxiv : the Preprint Server for Biology, 2023
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