RS398124572 BCKDHB
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What This Variant Does
"CLNSIG=5
Associated Conditions
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Other Variants in BCKDHB