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Publications

Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing

Genotype-phenotype correlation at codon 1740 ofSETD2

Germline AGO2 mutations impair RNA interference and human neurological development

Hyperkeratotic hand eczema: Eczema or not?

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

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