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searching for BCKDHA 1 found (306 total)

alternate case: bCKDHA

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1:180000 in the U.S. 1:176 in Mennonite/Amish communities 1:250000 in Austria BCKDHA, BCKDHB, DBT, DLD Niemann–Pick disease, SMPD1-associated 1,200 cases worldwide