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Paper Details

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Am J Hum Genet
10
2023
SMN1, SMN1 allele, SMN1 haplotypes, SMN2, SMN2 haplogroups, SMN2 haplotypes, Spinal muscular atrophy, alleles, chromosome, early infant death, full-length SMN1, genetic, homologous genes, spinal muscular atrophy, two-copy SMN1 allele
Author NameAffiliation
Dalia KasperaviciuteGenomics England Ltd.
Christian GilissenRadboud University Medical Center, the Netherlands Radboud Institute for Molecular Life Sciences
Tomi PastinenUSA UMKC School of Medicine, University of Missouri Kansas City
Michael A Eberle
Michael A Eberle
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