Associated Papers
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
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
Kirwin SM et al.
Molecular Genetics & Genomic Medicine, 2013
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