Varaico: Literature-Extracted Genetic Variants

Gene:OGDH
Variant:p.Y394N
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OGDH

NM_002541.4:p.Y394N

Associated Papers

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Fisher CR et al.

American Journal of Human Genetics, 1991

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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."