Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R230G
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BCKDHA

NM_000709.4:p.R230G

Associated Papers

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.

Chuang JL et al.

The Journal of Clinical Investigation, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."