Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.L274del1
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BCKDHB

NM_183050.4:p.L274del1

Associated Papers

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

Flaschker N et al.

Journal of Inherited Metabolic Disease, 2007

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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."