Associated Papers
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.
Wirth B et al.
American Journal of Human Genetics, 2026
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf
Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.
Ganji H et al.
Journal of Child Neurology, 2015
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