Associated Papers
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
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Stabley DL et al.
Molecular Genetics & Genomic Medicine, 2015
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S et al.
Human Mutation, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
Select a paper to view details