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Genetics in Medicine Open
(Jan 2023)
P444: SMA carrier screening utilizing SNP array technology and confirmatory ddPCR reveals an isolated SMN1 exon 8 deletion
Noemi Vidal-Folch,
Jennifer Winters,
Devin Oglesbee,
Linda Hasadsri,
Sara Cook
Affiliations
Noemi Vidal-Folch
Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN
Jennifer Winters
Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN
Devin Oglesbee
Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN
Linda Hasadsri
Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN
Sara Cook
Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN
Journal volume & issue
Vol. 1, no. 1
p. 100491
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