Associated Papers
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Zwartkruis MM et al.
Genome Medicine, 2025
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Chen X et al.
American Journal of Human Genetics, 2023
36669496 (PubMed )
Supplement: mmc1.pdf
Genetics of Amyotrophic Lateral Sclerosis.
Ghasemi M et al.
Cold Spring Harbor Perspectives in Medicine, 2018
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