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» Novel BCKDHB variant and 6q14.1 deletion tied to double diagnosis of maple syrup urine disease and CHUJANS
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Biomarkers
Novel BCKDHB variant and 6q14.1 deletion tied to double diagnosis of maple syrup urine disease and CHUJANS
March 22, 2023
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Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
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