Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.

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Bibliographic Details
Title: Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.
Authors: Vidal-Folch N; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Stout C; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Winters J; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Oglesbee D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Hasadsri L; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA. hasadsri.linda@mayo.edu., Cook SL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA. cook.sara@mayo.edu.
Source: BMC medical genomics [BMC Med Genomics] 2026 Jun 06. Date of Electronic Publication: 2026 Jun 06.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1755-8794
DOI:10.1186/s12920-026-02406-6