Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure.

Genetic variants of the human branched chain α-keto acid dehydrogenase, E1-β subunit (BCKDHB) gene were identified and they have been associated with premature ovarian failure (POF). Reconstructed haplotype from these variants was also associated with POF.

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