AIMC Journal:
Neurogenetics
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Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review.
Neurogenetics
Sep 26, 2026
Variants that disrupt pre-mRNA splicing represent a historically underrecognized proportion of pathogenic alleles in Mendelian neurological disorders, accounting for an estimated 15-30% of disease-causing variants. Conventional clinical genomic pipel...
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