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Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Bryce A. Seifert, Honey V. Reddi, Benjamin E. Kang, Lora Jh Bean, Amy Shealy, Nancy C. Rose

2024Genetics in Medicine12 citationsDOIOpen Access PDF

Topics & Concepts

Myotonic dystrophyMedical geneticsGenomicsGenetic testingMedicineGeneticsBiologyGenomeGeneGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyNeurological disorders and treatments
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