Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients
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Presenting Author - Babi Nallamilli, PhD, FACMG; Co-Author - Yinghong Pan, PhD; Co-Author - Jagannathan Lakshmanan, PhD; Co-Author - Vinish Ramachander, PhD; Co-Author - Madhuri Hegde, PhD, FACMG;
Meta Tag
Genetic Testing
Musculoskeletal system
NextGen Sequencing
Co-Author Yinghong Pan, PhD
Co-Author Jagannathan Lakshmanan, PhD
Co-Author Vinish Ramachander, PhD
Co-Author Madhuri Hegde, PhD, FACMG
Presenting Author Babi Nallamilli, PhD, FACMG
Keywords
next-generation sequencing
diagnostic muscular dystrophy
LGMD subtypes
Oculopharyngeal Muscular Dystrophy
VCP related inclusion body myopathy
copy number variants
MD genes
targeted sequence capture
ACMG standards and guidelines
rare MD subtypes

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