the pathological mutation

In maple syrup urine disease, what is the pathological mutation?

do they involve this g3235, what about this mutation, does it normal polymorphism ?
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NB MSUD is a autosomal recessive disease, meaning that your variant should be present on both copies (homozygote) or there be a extra, independent variant (compound heterozygosity). Having contact with a genetic counselor is relevant when your question relates to a actual patient.

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