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Updated: Dec 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
Ezgi Saylam1, Steven A Moore1, Akilandeswari Aravindhan1
1Department of Pediatrics (E.S., A.A., A.V.), Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock; MNG Laboratories (H.M., P.N.), Atlanta, GA; Department of Pathology (S.A.M., M.O.C.), University of Iowa; Department of Pathology (M.G.), University of Arkansas for Medical Sciences, Little Rock; Departments of Pediatrics and Physical Medicine and Rehabilitation (V.S.), Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock.
No abstract available in PubMed .
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